Exome data file for the variant SDCBP2 gene Causing ID and neurodevelopmental delay in Pakistan
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://doi.org/10.7910/DVN/1DW1PK
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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.
创建时间：
2020-06-10
