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Consensus Interpretation of the P.met34thr and P.val37ile Variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen,Andrea M. Oza,Ignacio del Castillo,Hatice Duzkale,Tatsuo Matsunaga,Arti Pandya,Hyunseok P. Kang,Rebecca Mar-Heyming,Saurav Guha,Krista Moyer,Christine Lo,Margaret Kenna,John J. Alexander,Yan Zhang,Yoel Hirsch,Minjie Luo,Ye Cao,Kwong Wai Choy,Yen-Fu Cheng,Karen B. Avraham, Xinhua Hu,Gema Garrido,Miguel A. Moreno-Pelayo,John Greinwald,Kejian Zhang,Yukun Zeng,Zippora Brownstein,Lina Basel-Salmon,Bella Davidov,Moshe Frydman,Tzvi Weiden,Narasimhan Nagan,Alecia Willis,Sarah E. Hemphill,Andrew R. Grant,Rebecca K. Siegert,Marina T. DiStefano,Sami S. Amr,Heidi L. Rehm,Ahmad N. Abou Tayoun,Hela Azaiez

Genetics in Medicine（2019）

Cited 68|Views73
Key words
ClinGen,hearing loss,incomplete penetrance,variant classification,variant interpretation
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