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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EVC2

Variant:p.D238N

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EVC2

NM_147127.5:p.D238N

hg38:chr4:5685474 C>T

Associated Papers

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

Wang T et al.

Frontiers in Pediatrics, 2021

34912761 (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."