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PAH c.281T>G ;(p.I94S)
Variant ID: 12-103288584-A-C
NM_000277.1(
PAH
):c.281T>G;(p.I94S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.
Nutrients
Scala, Iris I; Concolino, Daniela D; Nastasi, Anna A; Esposito, Giulia G; Crisci, Daniela D; Sestito, Simona S; Ferraro, Stefania S; Albano, Lucia L; Ruoppolo, Margherita M; Parenti, Giancarlo G; Strisciuglio, Pietro P
Publication Date: 2021-11-10
Variant appearance in text: PAH: I94S
PubMed Link:
34836270
Variant Present in the following documents:
Main text
nutrients-13-04012.pdf
View BVdb publication page
The role of protein structural analysis in the next generation sequencing era.
Topics In Current Chemistry
Yue, Wyatt W WW; Froese, D Sean DS; Brennan, Paul E PE
Publication Date: 2014
Variant appearance in text: PAH: I94S
PubMed Link:
22610134
Variant Present in the following documents:
Main text
978-3-642-39942-8_Chapter_326.pdf
View BVdb publication page