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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.T236Splc

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PAH

NM_000277.3:p.T236Splc

hg38:chr12:102852951 C>G

Associated Papers

Mutational landscape of phenylketonuria in Iran.

Ajami N et al.

Journal of Cellular and Molecular Medicine, 2023

37525467 (PubMed )

Supplement: JCMM-27-2457-s005.xlsx › Sheet1

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

Shirzadeh T et al.

Journal of Inherited Metabolic Disease, 2018

30159852 (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."