Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.A196T
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SLC3A2

NM_001013251.3:p.A196T

Associated Papers

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies.

Rose S et al.

Molecular Genetics and Metabolism Reports, 2025

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.

Brancati F et al.

Journal of Medical Genetics, 2003

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

Woo A et al.

Heart (british Cardiac Society), 2003

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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."