PRRT2 c.48G>T ;(p.E16D)

Variant ID: 16-29824423-G-T

NM_145239.2(PRRT2):c.48G>T;(p.E16D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


FHIT, a Novel Modifier Gene in Pulmonary Arterial Hypertension.

American Journal Of Respiratory And Critical Care Medicine
Dannewitz Prosseda, Svenja S; Tian, Xuefei X; Kuramoto, Kazuya K; Boehm, Mario M; Sudheendra, Deepti D; Miyagawa, Kazuya K; Zhang, Fan F; Solow-Cordero, David D; Saldivar, Joshua C JC; Austin, Eric D ED; Loyd, James E JE; Wheeler, Lisa L; Andruska, Adam A; Donato, Michele M; Wang, Lingli L; Huebner, Kay K; Metzger, Ross J RJ; Khatri, Purvesh P; Spiekerkoetter, Edda E
Publication Date: 2019-01-01

Variant appearance in text: PKC: E16D
PubMed Link: 30107138
Variant Present in the following documents:
  • Main text
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