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PAH c.1198A>C ;(p.R400=)
Variant ID: 12-103237425-T-G
NM_000277.1(
PAH
):c.1198A>C;(p.R400=)
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:
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Genes
Vela-Amieva, Marcela M; Alcántara-Ortigoza, Miguel Angel MA; Ibarra-González, Isabel I; González-Del Angel, Ariadna A; Fernández-Hernández, Liliana L; Guillén-López, Sara S; López-Mejía, Lizbeth L; Carrillo-Nieto, Rosa Itzel RI; Belmont-Martínez, Leticia L; Fernández-Lainez, Cynthia C
Publication Date: 2021-10-23
Variant appearance in text: PAH: Arg400=
PubMed Link:
34828281
Variant Present in the following documents:
Main text
genes-12-01676.pdf
View BVdb publication page