PAH c.1229T>G ;(p.F410C)

Variant ID: 12-103234264-A-C

NM_000277.1(PAH):c.1229T>G;(p.F410C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine
Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L
Publication Date: 2021-03

Variant appearance in text: PAH: 1229T>G; Phe410Cys
PubMed Link: 33465300
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1559.pdf
View BVdb publication page