PAH c.994G>A ;(p.G332R)

Variant ID: 12-103238185-C-T

NM_000277.1(PAH):c.994G>A;(p.G332R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; Carvalho, Lilian M LM; Lacerda, Lúcia L; Ribeiro, Márcia G MG
Publication Date: 2019-05

Variant appearance in text: PAH: 994G>A
PubMed Link: 30829006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Vieira Neto, Eduardo E; Maia Filho, Heber de Souza HS; Monteiro, Claudia Braga CB; Carvalho, Lilian de Mattos LM; da Cruz, Thuane Silva TS; de Barros, Belisia Vasconcelos BV; Ribeiro, Marcia Gonçalves MG
Publication Date: 2018-10-30

Variant appearance in text: PAH: 994G>A; G332R
PubMed Link: 30375370
Variant Present in the following documents:
  • medscimonit-24-7759.pdf
View BVdb publication page



Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; D M Carvalho, Lilian L; Lacerda, Lúcia L; G Ribeiro, Márcia M
Publication Date: 2018-05-10

Variant appearance in text: PAH: 994G>A; G332R
PubMed Link: 29749107
Variant Present in the following documents:
  • Main text
  • MGG3-6-575.pdf
View BVdb publication page