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| Haematological malignancies cancer susceptibility v4.2 | PTPN13 |
Dmitrijs Rots gene: PTPN13 was added gene: PTPN13 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN13 were set to PMID: 35643866 Phenotypes for gene: PTPN13 were set to bone marrow failure and acute lymphoblastic leukemia Review for gene: PTPN13 was set to AMBER Added comment: PMID: 35643866 described two families with biallelic PTPN13 and bone marrow failure and acute lymphoblastic leukemia and some functional evidence. In gnomAD (under variant co-occurence) no rare truncating and strong missense in comp het or homozygous states. Sources: Literature |
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