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