EPN3 c.1042C>T ;(p.P348S)

Variant ID: 17-48618216-C-T

NM_017957.2(EPN3):c.1042C>T;(p.P348S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: EPN3: 1042C>T
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page