PAH c.72_76del ;(p.Y24*)

Variant ID: 12-103306661-TCAATA-T

NM_000277.1(PAH):c.72_76del;(p.Y24*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Genome Medicine
Zhu, Na N; Welch, Carrie L CL; Wang, Jiayao J; Allen, Philip M PM; Gonzaga-Jauregui, Claudia C; Ma, Lijiang L; King, Alejandra K AK; Krishnan, Usha U; Rosenzweig, Erika B EB; Ivy, D Dunbar DD; Austin, Eric D ED; Hamid, Rizwan R; Pauciulo, Michael W MW; Lutz, Katie A KA; Nichols, William C WC; Reid, Jeffrey G JG; Overton, John D JD; Baras, Aris A; Dewey, Frederick E FE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2018-07-20

Variant appearance in text: PAH: 72_76del
PubMed Link: 30029678
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_566.pdf
View BVdb publication page