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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTU2

Variant:p.V164M

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CTU2

NM_001318507.2:p.V164M

hg38:chr16:88712207 G>A

Associated Papers

A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.

Komachali SR et al.

Genomics & Informatics, 2022

35794704 (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."