Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S16P
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PAH

NM_000277.3:p.S16P

Associated Papers

In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.

Lopez A et al.

Proteins, 2021

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

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_MOESM5_ESM.xlsx › S4

15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.

Hornbeck PV et al.

Nucleic Acids Research, 2019

30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.

Jennings IG et al.

European Journal of Human Genetics : Ejhg, 2000

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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."