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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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