Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.G39delins
Back to variants list

HMGCL

NM_000191.3:p.G39delins

Associated Papers

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Puisac B et al.

Molecular Genetics and Metabolism, 2013

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."