NSF c.278G>T ;(p.G93V)

Variant ID: 17-44714781-G-T

NM_006178.3(NSF):c.278G>T;(p.G93V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: NSF: 278G>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Loss of metal ions, disulfide reduction and mutations related to familial ALS promote formation of amyloid-like aggregates from superoxide dismutase.

Plos One
Oztug Durer, Zeynep A ZA; Cohlberg, Jeffrey A JA; Dinh, Phong P; Padua, Shelby S; Ehrenclou, Krista K; Downes, Sean S; Tan, James K JK; Nakano, Yoko Y; Bowman, Christopher J CJ; Hoskins, Jessica L JL; Kwon, Chuhee C; Mason, Andrew Z AZ; Rodriguez, Jorge A JA; Doucette, Peter A PA; Shaw, Bryan F BF; Valentine, Joan Selverstone JS
Publication Date: 2009

Variant appearance in text: NSF: G93V
PubMed Link: 19325915
Variant Present in the following documents:
  • Main text
  • pone.0005004.pdf
View BVdb publication page