Rochelle R. Maxwell
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View article: <i>FANCA</i> c.3624C&gt;T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
<i>FANCA</i> c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia Open
Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic variants in any 1 of 22 known genes (FANCA-FANCW). Variants in FANCA account for nearly two-thirds of all patients with FA. Clinical presentation of F…