Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.G720V
Back to variants list

ALG13

NM_001099922.3:p.G720V

Associated Papers

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Gadomski TE et al.

American Journal of Medical Genetics. Part A, 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."