Exome data file for the variant SDCBP2 gene Causing ID and neurodevelopmental delay in Pakistan

Name: Exome data file for the variant SDCBP2 gene Causing ID and neurodevelopmental delay in Pakistan
Creator: International Islamic University, Islamabad
Published: 2020-01-01T00:00:00+08:00

Harvard Dataverse2020-06-10 更新2026-04-09 收录

致病基因鉴定

神经发育障碍遗传学

数据链接：

https://dataverse.harvard.edu/citation?persistentId=doi:10.7910/DVN/1DW1PK 数据链接链接失效反馈

官方服务：

资源简介：

we are reporting Homozygous (c.G556T, p.Asp186Tyr) mutation in the novel candidate syndecan binding protein gene SDCBP2. SDCBP2 gene is a multi-functional gene involved in neurotransmitter, neural, and synaptic development in Pakistani family.

提供机构：

International Islamic University, Islamabad

创建时间：

2020-01-01