CEP131 c.177+1954G>C

Variant ID: 17-79191726-C-G

NM_014984.2(CEP131):c.177+1954G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs9896850
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

Neurobiology Of Aging
Ferrari, Raffaele R; Grassi, Mario M; Salvi, Erika E; Borroni, Barbara B; Palluzzi, Fernando F; Pepe, Daniele D; D'Avila, Francesca F; Padovani, Alessandro A; Archetti, Silvana S; Rainero, Innocenzo I; Rubino, Elisa E; Pinessi, Lorenzo L; Benussi, Luisa L; Binetti, Giuliano G; Ghidoni, Roberta R; Galimberti, Daniela D; Scarpini, Elio E; Serpente, Maria M; Rossi, Giacomina G; Giaccone, Giorgio G; Tagliavini, Fabrizio F; Nacmias, Benedetta B; Piaceri, Irene I; Bagnoli, Silvia S; Bruni, Amalia C AC; Maletta, Raffaele G RG; Bernardi, Livia L; Postiglione, Alfredo A; Milan, Graziella G; Franceschi, Massimo M; Puca, Annibale A AA; Novelli, Valeria V; Barlassina, Cristina C; Glorioso, Nicola N; Manunta, Paolo P; Singleton, Andrew A; Cusi, Daniele D; Hardy, John J; Momeni, Parastoo P
Publication Date: 2015-10

Variant appearance in text: rs9896850
PubMed Link: 26154020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping of a blood pressure QTL on chromosome 17 in American Indians of the strong heart family study.

Bmc Cardiovascular Disorders
Franceschini, Nora N; Tao, Ran R; Liu, Lan L; Rutherford, Sue S; Haack, Karin K; Almasy, Laura L; Göring, Harald Hh HH; Laston, Sandra S; Lee, Elisa T ET; Best, Lyle G LG; Fabsitz, Richard R; Cole, Shelley A SA; North, Kari E KE
Publication Date: 2014-11-11

Variant appearance in text: rs9896850
PubMed Link: 25387527
Variant Present in the following documents:
  • Main text
  • 12872_2014_Article_802.pdf
View BVdb publication page