EPN3 c.563-111G>A

Variant ID: 17-48615329-G-A

NM_017957.2(EPN3):c.563-111G>A

This variant was identified in 2 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: rs2306001
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.

Molecular Psychiatry
Strom, S P SP; Stone, J L JL; Ten Bosch, J R JR; Merriman, B B; Cantor, R M RM; Geschwind, D H DH; Nelson, S F SF
Publication Date: 2010-10

Variant appearance in text: rs2306001
PubMed Link: 19455149
Variant Present in the following documents:
  • Main text
View BVdb publication page