Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.Y224D
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G6PC1

NM_000151.4:p.Y224D

Associated Papers

Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).

Christen M et al.

Animal Genetics, 2021

34610166 (PubMed )
Supplement: AGE-52-900-s001.xlsx › Private_homozygous_variants
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