NF1 c.61-16279G>A

Variant ID: 17-29466722-G-A

NM_001042492.2(NF1):c.61-16279G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12603885
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Polygenic Hyperlipidemias and Coronary Artery Disease Risk.

Circulation. Genomic And Precision Medicine
Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,
Publication Date: 2020-04

Variant appearance in text: rs12603885
PubMed Link: 32154731
Variant Present in the following documents:
  • hcg-13-e002725-s001.pdf
View BVdb publication page



Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

European Journal Of Human Genetics : Ejhg
Shahin, Hashem H; Walsh, Tom T; Rayyan, Amal Abu AA; Lee, Ming K MK; Higgins, Jake J; Dickel, Diane D; Lewis, Kristen K; Thompson, James J; Baker, Carl C; Nord, Alex S AS; Stray, Sunday S; Gurwitz, David D; Avraham, Karen B KB; King, Mary-Claire MC; Kanaan, Moien M
Publication Date: 2010-04

Variant appearance in text: rs12603885
PubMed Link: 19888295
Variant Present in the following documents:
  • Main text
View BVdb publication page