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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADHB

Variant:p.Y244delFs

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HADHB

NM_000183.3:p.Y244delFs

hg38:chr2:26279235 AT>A

Associated Papers

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.

Chakravorty S et al.

Scientific Reports, 2020

32999401 (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."