Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.P280L
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F2

NM_000506.5:p.P280L

Associated Papers

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Elpeleg ON et al.

Journal of Inherited Metabolic Disease, 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."