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http://purl.uniprot.org/uniprot/O95870"In SPG86; no protein detected in homozygous patient cells; increased levels of phosphatidylserine and decreased levels of lysophosphatidylserine in homozygous patient cells, indicating loss of function in phosphatidylserine catabolism."xsd:string
http://purl.uniprot.org/uniprot/O95870"In SPG86; no protein detected in homozygous patient cells; increased levels of phosphatidylserine and decreased levels of lysophosphatidylserine in homozygous patient cells, indicating loss of function in phosphatidylserine catabolism."xsd:string
http://purl.uniprot.org/uniprot/O95870"In SPG86; no protein detected in homozygous patient cells; increased levels of phosphatidylserine and decreased levels of lysophosphatidylserine in homozygous patient cells, indicating loss of function in phosphatidylserine catabolism."xsd:string
http://purl.uniprot.org/uniprot/O95870"In SPG86; no protein detected in homozygous patient cells; increased levels of phosphatidylserine and decreased levels of lysophosphatidylserine in homozygous patient cells, indicating loss of function in phosphatidylserine catabolism."xsd:string
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/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/Q9UKV8"In LESKRES; complete loss of function. Changes in the subcellular location pattern. Diffuse location into the cytoplasm. Does not bind mRNA. Abolishes interaction with DICER1. Abolishes phosphorylation of the C-terminal serine cluster. Does not affect phosphorylation of Ser-387."xsd:string
http://purl.uniprot.org/uniprot/Q9UKV8"In LESKRES; complete loss of function. Changes in the subcellular location pattern. Diffuse location into the cytoplasm. Does not bind mRNA. Abolishes interaction with DICER1. Abolishes phosphorylation of the C-terminal serine cluster. Does not affect phosphorylation of Ser-387."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; 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/P50993"In FHM2; 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/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/Q96F25"In CMS15; results in a severe reduction in protein expression; loss of function mutation."xsd:string