PAH c.686A>G ;(p.D229G)

Variant ID: 12-103248934-T-C

NM_000277.1(PAH):c.686A>G;(p.D229G)

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: 686A>G; Asp229Gly
PubMed Link: 31230075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Genes
Pecimonova, Martina M; Kluckova, Daniela D; Csicsay, Frantisek F; Reblova, Kamila K; Krahulec, Jan J; Procházkova, Dagmar D; Skultety, Ludovit L; Kadasi, Ludevit L; Soltysova, Andrea A
Publication Date: 2019-06-15

Variant appearance in text: PAH: 686A>G; Asp229Gly
PubMed Link: 31208052
Variant Present in the following documents:
  • Main text
  • genes-10-00459.pdf
View BVdb publication page