PSEN1 c.331G>T ;(p.G111W)

Variant ID: 14-73637748-G-T

NM_000021.3(PSEN1):c.331G>T;(p.G111W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica
Nicolas, Gaël G; Veltman, Joris A JA
Publication Date: 2019-02

Variant appearance in text: PSEN1: 331G>T; Gly111Trp
PubMed Link: 30478624
Variant Present in the following documents:
  • 401_2018_1939_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine
Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,
Publication Date: 2017-03

Variant appearance in text: PSEN1: 331G>T; Gly111Trp
PubMed Link: 28350801
Variant Present in the following documents:
  • Main text
  • pmed.1002270.pdf
View BVdb publication page