PC c.514dup ;(p.A172Gfs*8)

Variant ID: 11-66638641-G-GC

NM_001040716.1(PC):c.514dup;(p.A172Gfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.

Scientific Reports
Tomioka, Keita K; Miyamoto, Tatsuo T; Akutsu, Silvia Natsuko SN; Yanagihara, Hiromi H; Fujita, Kazumasa K; Royba, Ekaterina E; Tauchi, Hiroshi H; Yamamoto, Takashi T; Koh, Iemasa I; Hirata, Eiji E; Kudo, Yoshiki Y; Kobayashi, Masao M; Okada, Satoshi S; Matsuura, Shinya S
Publication Date: 2021-10-04

Variant appearance in text: PC: 514_514insG
PubMed Link: 34608183
Variant Present in the following documents:
  • 41598_2021_Article_98673.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: PC: 514dupG
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page