Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.Q101_V102Splc
Back to variants list

ALDH18A1

NM_002860.4:p.Q101_V102Splc

Associated Papers

Vitamin D dependent rickets type I.

Kim CJ

Korean Journal of Pediatrics, 2011

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Zhang YH et al.

Pediatric Research, 2006

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."