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| Mendeliome v2.277 | PTK2B | Rylee Peters Marked gene: PTK2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.277 | PTK2B | Rylee Peters Gene: ptk2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.277 | PTK2B |
Rylee Peters gene: PTK2B was added gene: PTK2B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTK2B were set to 42252453 Phenotypes for gene: PTK2B were set to Inborn error of immunity, MONDO:0003778, PTK2B-related Review for gene: PTK2B was set to RED Added comment: PMID: 42252453 reports three affected individuals from one Chinese Han family with a heterozygous missense PTK2B c.1679C>G (p.Pro560Arg) variant presenting with adult‑onset primary biliary cholangitis (PBC). Homozygous knock‑in mice recapitulate PBC‑like autoimmune features, whereas heterozygous mice are phenotypically normal. Sources: Literature |
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