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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.C237S

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PAH

NM_000277.3:p.C237S

hg38:chr12:102852947 C>G

Associated Papers

Effect of mutations at Cys237 on the activation state and activity of human phenylalanine hydroxylase.

Knappskog PM et al.

Febs Letters, 1997

9199493 (PubMed )

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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."