Varaico: Literature-Extracted Genetic Variants

Gene:ASCC1
Variant:p.S311*
Back to variants list

ASCC1

NM_001198800.3:p.S311*

Associated Papers

The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.

Pan P et al.

Molecular Genetics & Genomic Medicine, 2025

Clinical application of whole-exome sequencing: A retrospective, single-center study.

Zhang Q et al.

Experimental and Therapeutic Medicine, 2021

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.

Meunier J et al.

International Journal of Molecular Sciences, 2021

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."