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http://purl.uniprot.org/uniprot/P12235"In MTDPS12B; loss of function in ADP transport."xsd:string
http://purl.uniprot.org/uniprot/P12235"In MTDPS12B; loss of function in ADP transport."xsd:string
http://purl.uniprot.org/uniprot/Q8TD30"In MRT49; loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/Q13873"In PPH1; complete loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis; unknown pathological significance."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/O00555"In SCA6; also found in patients with global developmental delay and congenital ataxia; loss of function observed in the Drosophila homolog."xsd:string
http://purl.uniprot.org/uniprot/O00555"In EA2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q6ZSZ5"In RP78; decreased function in positive regulation of Rho protein signal transduction; loss of function in regulation of actomyosin structure organization."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."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."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