Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.K514E
Back to variants list

ALDH7A1

NM_001182.5:p.K514E

Associated Papers

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.

Bottino M et al.

Molecular Genetics and Metabolism Reports, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."