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PubMed (cited) for id: 617602
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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Hum Mutat. 2020 Oct;41(10):1738-1744. doi: 10.1002/humu.24075. Epub 2020 Jul 19.
Hum Mutat. 2020.
PMID: 32643838
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y.
Wang X, et al.
Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.
Nat Genet. 2017.
PMID: 28288113
Free PMC article.
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