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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHST8

Variant:p.V318E

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CHST8

NM_001127895.2:p.V318E

hg38:chr19:33772741 T>A

Associated Papers

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )

Supplement: 41598_2018_30151_MOESM1_ESM.docx

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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."