NOTCH1 c.6200T>G ;(p.L2067R)

Variant ID: 9-139391991-A-C

NM_017617.3(NOTCH1):c.6200T>G;(p.L2067R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Molecular Psychiatry
Mercati, O O; Huguet, G G; Danckaert, A A; André-Leroux, G G; Maruani, A A; Bellinzoni, M M; Rolland, T T; Gouder, L L; Mathieu, A A; Buratti, J J; Amsellem, F F; Benabou, M M; Van-Gils, J J; Beggiato, A A; Konyukh, M M; Bourgeois, J-P JP; Gazzellone, M J MJ; Yuen, R K C RK; Walker, S S; Delépine, M M; Boland, A A; Régnault, B B; Francois, M M; Van Den Abbeele, T T; Mosca-Boidron, A L AL; Faivre, L L; Shimoda, Y Y; Watanabe, K K; Bonneau, D D; Rastam, M M; Leboyer, M M; Scherer, S W SW; Gillberg, C C; Delorme, R R; Cloëz-Tayarani, I I; Bourgeron, T T
Publication Date: 2017-04

Variant appearance in text: NOTCH1: L2067R
PubMed Link: 27166760
Variant Present in the following documents:
  • Main text
  • mp201661a.pdf
View BVdb publication page