PAH c.581T>G ;(p.L194R)

Variant ID: 12-103249039-A-C

NM_000277.1(PAH):c.581T>G;(p.L194R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Genetic Testing And Molecular Biomarkers
Ben-Rebeh, Imen I; Hertecant, Jozef L JL; Al-Jasmi, Fatma A FA; Aburawi, Hanan E HE; Al-Yahyaee, Said A SA; Al-Gazali, Lihadh L; Ali, Bassam R BR
Publication Date: 2012-05

Variant appearance in text: PAH: L194R
PubMed Link: 22106832
Variant Present in the following documents:
  • Main text
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