NCAN c.3115G>A ;(p.A1039T)

Variant ID: 19-19344693-G-A

NM_004386.2(NCAN):c.3115G>A;(p.A1039T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: NCAN: A1039T; rs146011974
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports
Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J
Publication Date: 2017-08-24

Variant appearance in text: CSPG3: Ala1039Thr; rs146011974
PubMed Link: 28839234
Variant Present in the following documents:
  • Main text
  • 41598_2017_10175_MOESM1_ESM.pdf
  • 41598_2017_10175_MOESM4_ESM.xls, sheet 2
  • 41598_2017_10175_MOESM3_ESM.xls, sheet 2
  • 41598_2017_Article_10175.pdf
  • 41598_2017_10175_MOESM3_ESM.xls, sheet 1
  • 41598_2017_10175_MOESM4_ESM.xls, sheet 1
View BVdb publication page