Varaico: Literature-Extracted Genetic Variants

Gene:ARPIN
Variant:p.I42F
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ARPIN

NM_182616.4:p.I42F

Associated Papers

Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.

Bruni N et al.

Annals of Human Genetics, 1999

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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."