Varaico: Literature-Extracted Genetic Variants

Gene:ALG2
Variant:p.R251C
Back to variants list

ALG2

NM_033087.4:p.R251C

Associated Papers

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Zhao P et al.

Orphanet Journal of Rare Diseases, 2025

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.

Jiao Q et al.

Clinical Genetics, 2019

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."