Exome data file for the variant SDCBP2 gene Causing ID and neurodevelopmental delay in Pakistani Family
收藏DataONE2020-05-11 更新2024-06-08 收录
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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.
创建时间:
2023-11-22



