Varaico: Literature-Extracted Genetic Variants

Gene:ALG11
Variant:p.E312A
Back to variants list

ALG11

NM_001004127.3:p.E312A

Associated Papers

A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Kart PO et al.

Neurogenetics, 2025

A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.

Arai Y et al.

Brain & Development, 2022

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."