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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EVC

Variant:p.R576W

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EVC

NM_153717.3:p.R576W

hg38:chr4:5783714 C>T

Associated Papers

Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene.

Tan M et al.

Molecular Syndromology, 2025

40475175 (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."