Varaico: Literature-Extracted Genetic Variants

Gene:ENGASE
Variant:p.H310H
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ENGASE

NM_001042573.3:p.H310H

Associated Papers

NGLY1 deficiency - clinical features and therapeutic strategy.

Fujihira H et al.

Journal of Human Genetics, 2025

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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."