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PPARGC1A c.1313T>C ;(p.L438S)
Variant ID: 4-23815793-A-G
NM_013261.3(
PPARGC1A
):c.1313T>C;(p.L438S)
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:
Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.
Bmc Medical Genetics
Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I
Publication Date: 2018-05-30
Variant appearance in text: rs35437002
PubMed Link:
29843651
Variant Present in the following documents:
12881_2018_608_MOESM1_ESM.pdf
View BVdb publication page