Phenotypic expansion illuminates multilocus pathogenic variation

Ender Karaca(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine), Zeynep Coban‐Akdemir(Baylor College of Medicine), Davut Pehli̇van(Baylor College of Medicine), Tamar Harel(Hadassah Medical Center), Shalini N. Jhangiani(Baylor College of Medicine), Yavuz Bayram(Baylor College of Medicine), Xiaofei Song(Baylor College of Medicine), Vahid Bahrambeigi(The University of Texas MD Anderson Cancer Center), Özge Özalp Yüreğir(Sağlık Bilimleri Üniversitesi), Sevcan Tuğ Bozdoğan(Cukurova University), Gözde Yeşil(Bezmiâlem Vakıf Üniversitesi), Sedat Işıkay(Hasan Kalyoncu University), Donna M. Muzny(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine)
Genetics in Medicine
April 26, 2018
10.1038/gim.2018.33
Cited by 152Open Access
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