Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.R173H
Back to variants list

ALDH5A1

NM_001080.3:p.R173H

Associated Papers

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.

Martin K et al.

Journal of Child Neurology, 2021

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
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."