Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A300V
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PAH

NM_000277.3:p.A300V

Associated Papers

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Tolve M et al.

Methods and Protocols, 2018

Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes.

Nebert DW

Human Mutation, 2002

Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

Zschocke J et al.

American Journal of Human Genetics, 1995

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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."