Varaico: Literature-Extracted Genetic Variants

Gene:HADHB
Variant:p.R52W
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HADHB

NM_000183.3:p.R52W

Associated Papers

Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.

Akagawa S et al.

Jimd Reports, 2017

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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."