MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics.
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DOI: 10.1007/s00439-025-02775-5
Abstract: Many pathogenic variants implicated in Mendelian diseases impair normal protein function, often through loss-of-function effects, while loss-of-function mutations in tumor suppressor genes commonly contribute to tumorigenesis. However, many disease-causing variants act through gain-of-function or other… read more here.
Keywords: tool predicts; function; mutant mutation; mutation ... See more keywords