Varaico: Literature-Extracted Genetic Variants

Gene:ASCC1
Variant:p.L278L
Back to variants list

ASCC1

NM_001198799.3:p.L278L

Associated Papers

The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.

Oliveira J et al.

Clinical Genetics, 2017

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."