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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GATM

Variant:p.K201N

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GATM

NM_001482.3:p.K201N

hg38:chr15:45368142 T>G

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."