CP c.134T>C ;(p.I45T)

Variant ID: 3-148939446-A-G

NM_000096.3(CP):c.134T>C;(p.I45T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

Npj Genomic Medicine
van Eyk, C L CL; Corbett, M A MA; Frank, M S B MSB; Webber, D L DL; Newman, M M; Berry, J G JG; Harper, K K; Haines, B P BP; McMichael, G G; Woenig, J A JA; MacLennan, A H AH; Gecz, J J
Publication Date: 2019

Variant appearance in text: CP: 134T>C
PubMed Link: 31700678
Variant Present in the following documents:
  • Main text
  • 41525_2019_Article_101.pdf
View BVdb publication page



Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.

Cell Discovery
Xu, Ting-Hai TH; Yan, Yan Y; Kang, Yanyong Y; Jiang, Yi Y; Melcher, Karsten K; Xu, H Eric HE
Publication Date: 2016

Variant appearance in text: CP: I45T
PubMed Link: 27625790
Variant Present in the following documents:
  • celldisc201626-s1.pdf
View BVdb publication page



The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.

The Embo Journal
Chávez-Gutiérrez, Lucía L; Bammens, Leen L; Benilova, Iryna I; Vandersteen, Annelies A; Benurwar, Manasi M; Borgers, Marianne M; Lismont, Sam S; Zhou, Lujia L; Van Cleynenbreugel, Simon S; Esselmann, Hermann H; Wiltfang, Jens J; Serneels, Lutgarde L; Karran, Eric E; Gijsen, Harrie H; Schymkowitz, Joost J; Rousseau, Frederic F; Broersen, Kerensa K; De Strooper, Bart B
Publication Date: 2012-05-16

Variant appearance in text: CP: I45T
PubMed Link: 22505025
Variant Present in the following documents:
  • emboj201279a.pdf
View BVdb publication page