PHF20L1 c.1808G>C ;(p.R603P)

Variant ID: 8-133844543-G-C

NM_016018.4(PHF20L1):c.1808G>C;(p.R603P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association
Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J
Publication Date: 2019-09-17

Variant appearance in text: rs184113048
PubMed Link: 31510873
Variant Present in the following documents:
  • JAH3-8-e012875-s001.pdf
  • JAH3-8-e012875.pdf
View BVdb publication page