Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S40L
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PAH

NM_000277.3:p.S40L

Associated Papers

Bending of DNA duplexes with mutation motifs.

Růžička M et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Sarkissian CN et al.

Jimd Reports, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
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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."