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| Haematological malignancies cancer susceptibility v4.2 | DHX34 |
Lauma Freimane gene: DHX34 was added gene: DHX34 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: DHX34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX34 were set to 32098966 Phenotypes for gene: DHX34 were set to Thrombocytopenia; Neutropenia; Pancytopenia; AML Penetrance for gene: DHX34 were set to Complete Review for gene: DHX34 was set to GREEN Added comment: PMID: 32098966 - "[..] functionally validated heterozygous variants in the RNA helicase DHX34, detected in four families, all of which impacted activity of the NMD (nonsense-mediated mRNA decay) pathway. [..]" Sources: Literature |
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