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| protein | text |
|---|---|
| http://purl.uniprot.org/uniprot/Q96C12 | "In AIMAH2; loss of function in promoting apoptosis."xsd:string |
| http://purl.uniprot.org/uniprot/Q96C12 | "In AIMAH2; uncertain significance; 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/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/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 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/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway via SMAD proteins activation; does not localize to the cell surface; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway via SMAD proteins activation; does not localize to the cell surface; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway via SMAD proteins activation; no effect on localization to the cell surface; no effect on BMP4 binding; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; complete loss of function; no effect on localization to the cell surface; no effect on BMP4 binding."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; sporadic; loss of function in BMP signaling pathway via SMAD proteins activation; does not localize to the cell surface; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; sporadic; loss of function in BMP signaling pathway via SMAD proteins activation; does not localize to the cell surface; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway; does not localize to the cell surface."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; complete loss of function; no effect on localization to the cell surface; no effect on BMP4 binding."xsd:string |
| http://purl.uniprot.org/uniprot/Q13873 | "In PPH1; loss of function in BMP signaling pathway via SMAD proteins activation; no effect on localization to the cell surface; no effect on BMP4 binding; when transfected in epithelial cells it results in constitutive p38MAPK phosphorylation consistent with a gain of function in the activation of p38MAPK cascade."xsd:string |