Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.K448Splc
Back to variants list

ALDH5A1

NM_001080.3:p.K448Splc

Associated Papers

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Pearl PL et al.

Developmental Medicine and Child Neurology, 2015

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Yoganathan S et al.

Annals of Indian Academy of Neurology, 0

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."