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.




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