Varaico: Literature-Extracted Genetic Variants

Gene:ACACA
Variant:p.N72Y
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ACACA

NM_198834.3:p.N72Y

Associated Papers

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao Y et al.

The Journal of Clinical Investigation, 1996

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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."