Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.R83L
Back to variants list

G6PC1

NM_000151.4:p.R83L

Associated Papers

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Abdul Wahab SA et al.

Genetics Research, 2022

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Kim YM et al.

Orphanet Journal of Rare Diseases, 2020

Molecular Genetics of Type 1 Glycogen Storage Diseases.

Yang Chou J et al.

Trends in Endocrinology and Metabolism: Tem, 1999

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei KJ et al.

The Journal of Biological Chemistry, 1995

[Case of a combination of enzyme-deficient forms of methemoglobinemia with enzyme-deficient hemolytic disease and reduced oxygenation of hemoglobin].

Gembitskiĭ EV et al.

Problemy Gematologii I Perelivaniia Krovi, 1975

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."