PAH c.344A>G ;(p.K115R)

Variant ID: 12-103288521-T-C

NM_000277.1(PAH):c.344A>G;(p.K115R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: 344A>G
PubMed Link: 31230075
Variant Present in the following documents:
  • dsz013.pdf
View BVdb publication page