Varaico: Literature-Extracted Genetic Variants

Gene:ASCC1
Variant:p.E41delFs
Back to variants list

ASCC1

NM_001198800.3:p.E41delFs

Associated Papers

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Lu W et al.

Molecular Genetics & Genomic Medicine, 2020

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."