Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y206D
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PAH

NM_000277.3:p.Y206D

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.

Shawky RM et al.

Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-majallah Al-sihhiyah Li-sharq Al-mutawassit, 2002

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

Effat L et al.

European Journal of Human Genetics : Ejhg, 0

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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."