Article

Polygenic mutations model the pleiotropic disease of Fanconi Anemia

2020-09-01

Abstract excerpt

Fanconi Anemia (FA) is a prototypic genetic disease signified by heterogeneous phenotypes including cancer, bone marrow failure, short stature, congenital abnormalities, infertility, sub-mendelian birth rate, genome instability and high cellular sensitivity to cancer therapeutics 1-4 . Clinical diagnosis is confirmed by identifying biallelic, homo- or hemizygous mutations in any one of twenty-three FANC genes 1...

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Literature Corpus work: 7b2ddce3-2773-5680-8981-f1e8393277c6
DOI: 10.1101/2020.09.01.277038

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