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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GART

Variant:p.D205H

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GART

NM_000819.5:p.D205H

hg38:chr21:33530869 C>G

Associated Papers

Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.

Argente-Escrig H et al.

Neurology, 2021

33067402 (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."