PAH c.20A>T ;(p.E7V)

Variant ID: 12-103310889-T-A

NM_000277.1(PAH):c.20A>T;(p.E7V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

American Journal Of Human Genetics
Tabor, Holly K HK; Auer, Paul L PL; Jamal, Seema M SM; Chong, Jessica X JX; Yu, Joon-Ho JH; Gordon, Adam S AS; Graubert, Timothy A TA; O'Donnell, Christopher J CJ; Rich, Stephen S SS; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ
Publication Date: 2014-08-07

Variant appearance in text: PAH: Glu7Val
PubMed Link: 25087612
Variant Present in the following documents:
  • Main text
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