PAH c.134T>C ;(p.V45A)

Variant ID: 12-103306603-A-G

NM_000277.1(PAH):c.134T>C;(p.V45A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Bending of DNA duplexes with mutation motifs.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Růžička, Michal M; Souček, Přemysl P; Kulhánek, Petr P; Radová, Lenka L; Fajkusová, Lenka L; Réblová, Kamila K
Publication Date: 2019-08-01

Variant appearance in text: PAH: 134T>C; Val45Ala
PubMed Link: 31230075
Variant Present in the following documents:
  • Main text
  • dsz013.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PAH: V45A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page