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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED16

Variant:p.D129insFs

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MED16

NM_005481.3:p.D129insFs

hg38:chr19:889699 T>TC

Associated Papers

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Huang Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

40254158 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."