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http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."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/P50993"In FHM2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/P50993"In FHM2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/P50993"In FHM2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/P50993"In FHM2; loss of function."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
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
http://purl.uniprot.org/uniprot/P54289"In DEE110; does not promote calcium currents in transfected cells indicating loss of function in the positive regulation of voltage-gated calcium channel activity; severely decreased localization at the cell membrane; undergoes limited proteolytic cleavage."xsd:string
http://purl.uniprot.org/uniprot/P54289"In DEE110; does not promote calcium currents in transfected cells indicating loss of function in the positive regulation of voltage-gated calcium channel activity; severely decreased localization at the cell membrane; undergoes limited proteolytic cleavage."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
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