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http://purl.uniprot.org/uniprot/Q96F25"In CMS15; results in a severe reduction in protein expression; loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/Q8TD30"In NEDSPM; loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/Q8TD30"In NEDSPM; loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/Q8N100"In PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization."xsd:string
http://purl.uniprot.org/uniprot/Q8N100"In PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant; abolishes heterodimerization with TCF3 E47 isoform; reduces DNA-binding ability and abolishes transcriptional activation; no effect on nuclear localization."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3, does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3, does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3, does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3; does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3; does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3; does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3, does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3, does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3, does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3; does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3; does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3; does not affect the interaction of isoform 2 with TBR1."xsd:string
http://purl.uniprot.org/uniprot/P30049"In MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays."xsd:string
http://purl.uniprot.org/uniprot/P30049"In MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays."xsd:string