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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADHB

Variant:p.M370V

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HADHB

NM_000183.3:p.M370V

hg38:chr2:26284163 A>G

Associated Papers

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.

Lee AJ et al.

Genes & Genomics, 2020

32314272 (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."