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.




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