FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
Ramanagouda Ramanagoudr-Bhojappa,
Rebecca Tryon,
Francis P. Lach
et al.
Abstract:Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic variants in any one of the 22 known genes (FANCA-FANCW). Variants in FANCA account for nearly two-thirds of all FA patients. Clinical presentation of FA can be heterogeneous and include congenital abnormalities, progressive bone marrow failure, and predisposition to cancer. Here we describe a relatively mild disease manifestation among six individuals diagnosed with FA, each compound heterozygous for one established pathog… Show more
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