GC c.391dup ;(p.Q131Pfs*12)

Variant ID: 4-72631230-T-TG

NM_000583.3(GC):c.391dup;(p.Q131Pfs*12)

This variant was identified in 2 publications

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: 390_391insC
PubMed Link: 35519826
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 391dupC; Gln131fs
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page