Varaico: Literature-Extracted Genetic Variants

Gene:MTMR12
Variant:p.R701C
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MTMR12

NM_001040446.3:p.R701C

Associated Papers

Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.

Tafaleng EN et al.

Hepatology (baltimore, Md.), 2024

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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."