Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
ClinGen听力损失专家组对GJB2基因中p.Met34Thr和p.Val37Ile变异的共识性解读
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0535-9
Shen, Jun; Oza, Andrea M; Del Castillo, Ignacio; Duzkale, Hatice; Matsunaga, Tatsuo; Pandya, Arti; Kang, Hyunseok P; Mar-Heyming, Rebecca; Guha, Saurav; Moyer, Krista; Lo, Christine; Kenna, Margaret; Alexander, John J; Zhang, Yan; Hirsch, Yoel; Luo, Minjie; Cao, Ye; Wai Choy, Kwong; Cheng, Yen-Fu; Avraham, Karen B; Hu, Xinhua; Garrido, Gema; Moreno-Pelayo, Miguel A; Greinwald, John; Zhang, Kejian; Zeng, Yukun; Brownstein, Zippora; Basel-Salmon, Lina; Davidov, Bella; Frydman, Moshe; Weiden, Tzvi; Nagan, Narasimhan; Willis, Alecia; Hemphill, Sarah E; Grant, Andrew R; Siegert, Rebecca K; DiStefano, Marina T; Amr, Sami S; Rehm, Heidi L; Abou Tayoun, Ahmad N