EPN3 c.1152dup ;(p.T385Hfs*20)

Variant ID: 17-48618320-G-GC

NM_017957.2(EPN3):c.1152dup;(p.T385Hfs*20)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Ebiomedicine
Zhang, Xiaoyan X; Yang, Ling L; Lei, Wanjun W; Hou, Qiang Q; Huang, Ming M; Zhou, Rongjing R; Enver, Tariq T; Wu, Shixiu S
Publication Date: 2022-08

Variant appearance in text: EPN3: 1147dupC
PubMed Link: 35785618
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: EPN3: 1146_1147insC; Thr385fs
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 3
View BVdb publication page