Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.K66K
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HADHA

NM_000182.5:p.K66K

Associated Papers

Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.

McMillan KJ et al.

The Journal of Cell Biology, 2016

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."