Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.F299C
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SERPINA1

NM_000295.5:p.F299C

Associated Papers

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).

Waters PJ et al.

Human Mutation, 1998

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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."