Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.A123D
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NAT2

NM_000015.3:p.A123D

Associated Papers

Mitochondrial protein import clogging as a mechanism of disease.

Coyne LP et al.

Elife, 2023

Impaired transport of nucleotides in a mitochondrial carrier explains severe human genetic diseases.

Ravaud S et al.

Acs Chemical Biology, 2012

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.

Kawamata H et al.

Human Molecular Genetics, 2011

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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."