A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
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DOI: 10.1002/humu.23366
Abstract: Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two‐thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi… read more here.
Keywords: missense variants; fanca variants; fanconi anemia; comprehensive approach ... See more keywords