Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S16fs
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PAH

NM_000277.3:p.S16fs

Associated Papers

Genomic profile analysis of diffuse-type gastric cancers.

Lee YS et al.

Genome Biology, 2014

24690483 (PubMed )
Supplement: gb-2014-15-4-r55-S2.xlsx › Additional_file_2

Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

Djordjevic M et al.

Jimd Reports, 2013

Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.

Stojiljkovic M et al.

Clinical Genetics, 2006

Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

Guldberg P et al.

Human Mutation, 1996

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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."