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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.R241G

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PAH

NM_000277.3:p.R241G

hg38:chr12:102852936 G>C

Associated Papers

Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.

Kasnauskiene J et al.

Genetika, 2008

19062537 (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."