Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.G216G
Back to variants list

CTNNB1

NM_001904.4:p.G216G

Associated Papers

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

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Chou JY et al.

Nature Reviews. Endocrinology, 2010

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."