. . . . . . . "[We describe a pedigree with FANCD2 mutations c.458T\uFFFD>\uFFFDC (p.Leu153Ser) and c.2715\uFFFD+\uFFFD1G\uFFFD>\uFFFDA (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:12:38+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .