A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
MYO15A基因的一个同义变异在德系犹太人群体中富集，由于异常剪接导致常染色体隐性遗传性听力损失。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-00790-w
Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A; Oza, Andrea M; Lafferty, Katherine; Amr, Sami S; Rehm, Heidi L; Kolbe, Diana L; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C; Scher, Sholem Y; Ekstein, Josef; Avraham, Karen B; Smith, Richard J H; Shen, Jun
