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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADHB

Variant:p.G434delFs

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HADHB

NM_000183.3:p.G434delFs

hg38:chr2:26285481 TG>T

Associated Papers

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.

Hiramatsu Y et al.

Journal of Neurology, 2022

35235001 (PubMed )

Supplement: 415_2022_11026_MOESM1_ESM.pdf

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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."