外显子组测序
突变
移码突变
单倍率不足
表型
遗传学
基因敲除
生物
基因
作者
Regina Proskorovski‐Ohayon,Marina Eskin‐Schwartz,Zamir Shorer,Rotem Kadir,Daniel Halpérin,Max Drabkin,Yuval Yogev,Sarit Aharoni,Noam Hadar,Hagit Cohen,Ekaterina Eremenko,Yonatan Perez,Ohad S. Birk
标识
DOI:10.1136/jmg-2023-109447
摘要
Sex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developmental delay and epilepsy.
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