Consensus interpretation of the Met34Thr and 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 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-Vanagaite, 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
2018 · doi:10.1101/493130
preprint OA: closed CC-BY-NC-ND-4.0
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License: CC-BY-NC-ND-4.0