Varaico: Literature-Extracted Genetic Variants

Gene:EVA1B
Variant:p.E126Q
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EVA1B

NM_001304762.2:p.E126Q

Associated Papers

Whole Exome Sequencing Identifies a Novel Homozygous Duplication Mutation in the VPS13B Gene in an Indian Family with Cohen Syndrome.

Kaushik P et al.

Journal of Molecular Neuroscience : Mn, 2020

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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."