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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.C265R

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PAH

NM_000277.3:p.C265R

hg38:chr12:102852864 A>G

Associated Papers

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Zhu T et al.

Gene, 2013

23932990 (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."