Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.L364R
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HADHA

NM_000182.5:p.L364R

Associated Papers

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.

Xu C et al.

Journal of Human Genetics, 2006

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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."