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AKAP12 c.163-11156A>G
Variant ID: 6-151615726-A-G
NM_005100.3(
AKAP12
):c.163-11156A>G
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.
Annals Of Clinical And Translational Neurology
Avidan, Nili N; Le Panse, Rozen R; Harbo, Hanne F HF; Bernasconi, Pia P; Poulas, Konstantinos K; Ginzburg, Elizabeta E; Cavalcante, Paola P; Colleoni, Lara L; Baggi, Fulvio F; Antozzi, Carlo C; Truffault, Frédérique F; Horn-Saban, Shirley S; Pöschel, Simone S; Zagoriti, Zoi Z; Maniaol, Angelina A; Lie, Benedicte A BA; Bernard, Isabelle I; Saoudi, Abdelhadi A; Illes, Zsolt Z; Casasnovas Pons, Carlos C; Melms, Arthur A; Tzartos, Socrates S; Willcox, Nicholas N; Kostera-Pruszczyk, Anna A; Tallaksen, Chantal C; Mantegazza, Renato R; Berrih-Aknin, Sonia S; Miller, Ariel A
Publication Date: 2014-05
Variant appearance in text: rs1124264
PubMed Link:
25356403
Variant Present in the following documents:
Main text
acn30001-0329.pdf
View BVdb publication page