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