Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family

Shumaila Zulfiqar,Muhammad Tariq,Shafaq Ramzan, Ayaz Khan,Muhammad Sher,Zafar Ali,Niklas Dahl,Uzma Abdullah,Shahid Mahmood Baig

Journal of Clinical Neuroscience（2021）

引用 1|浏览0

暂无评分

摘要

•A consanguineous Pakistani family was analyzed having clinical phenotype of GPR56 associated cobblestone like brain malformation.•A novel variant c.1601dupT (p.Ala535GlyfsTer17) was identified in GPR56 gene through whole exome sequencing and validated by Sanger sequencing.•No atypical symptoms were observed.

查看译文

关键词

Pakistani,GPR56,Exome,Cobblestone,Polymicrogyria,Mutation

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要