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. Author manuscript; available in PMC: 2015 Aug 18.
Published in final edited form as: Nat Genet. 2015 Jan 12;47(2):180–185. doi: 10.1038/ng.3177

Figure 1.

Figure 1

New ETV6 germline variants encoding p.Pro214Leu, p.Arg369Gln and p.Arg399Cys in association with thrombocytopenia and hematologic malignancy. Families A, B and C have ETV6 p.Arg399Cys, p.Arg369Gln and p.Pro214Leu variants, respectively, that segregate with thrombocytopenia and hematologic malignancy in each family. WT indicates genotyped subjects with only wild-type ETV6 alleles; R399C, R369Q, and P214L indicate subjects heterozygous for the variant allele. Arrows indicate the proband in each family.