Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.P800delFs
Back to variants list

AGL

NM_000642.3:p.P800delFs

Associated Papers

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

Lucchiari S et al.

American Journal of Medical Genetics, 2002

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.

Okubo M et al.

American Journal of Medical Genetics, 2000

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."