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protein | text |
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http://purl.uniprot.org/uniprot/P41181 | "In NDI2; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus."xsd:string |
http://purl.uniprot.org/uniprot/P41181 | "In NDI2; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus."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/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/Q96F25 | "In CMS15; results in a severe reduction in protein expression; loss of function mutation."xsd:string |
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/P55087 | "In MLC4; likely pathogenic; loss of function in cell volume regulation; does not localize to the cell membrane."xsd:string |
http://purl.uniprot.org/uniprot/P55087 | "In MLC4; likely pathogenic; loss of function in cell volume regulation; does not localize to the cell membrane."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/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 |