GC c.721dup ;(p.Q241Pfs*7)

Variant ID: 4-72623868-T-TG

NM_000583.3(GC):c.721dup;(p.Q241Pfs*7)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.

Nature Communications
Yurchenko, Andrey A AA; Rajabi, Fatemeh F; Braz-Petta, Tirzah T; Fassihi, Hiva H; Lehmann, Alan A; Nishigori, Chikako C; Wang, Jinxin J; Padioleau, Ismael I; Gunbin, Konstantin K; Panunzi, Leonardo L; Morice-Picard, Fanny F; Laplante, Pierre P; Robert, Caroline C; Kannouche, Patricia L PL; Menck, Carlos F M CFM; Sarasin, Alain A; Nikolaev, Sergey I SI
Publication Date: 2023-05-04

Variant appearance in text: GC: 719dupC
PubMed Link: 37142601
Variant Present in the following documents:
  • 41467_2023_38311_MOESM1_ESM.pdf
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: 719dupC; Gln241fs
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: GC: 719dupC
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page