GC c.483_484insC ;(p.E162Rfs*5)

Variant ID: 4-72629643-C-CG

NM_000583.3(GC):c.483_484insC;(p.E162Rfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

Hgg Advances
Zhong, Guojie G; Ahimaz, Priyanka P; Edwards, Nicole A NA; Hagen, Jacob J JJ; Faure, Christophe C; Lu, Qiao Q; Kingma, Paul P; Middlesworth, William W; Khlevner, Julie J; El Fiky, Mahmoud M; Schindel, David D; Fialkowski, Elizabeth E; Kashyap, Adhish A; Forlenza, Sophia S; Kenny, Alan P AP; Zorn, Aaron M AM; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-07-14

Variant appearance in text: GC: 483_484insC
PubMed Link: 35519826
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page