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PBX1 c.870del ;(p.Y291Tfs*5)
Variant ID: 1-164781257-CG-C
NM_002585.3(
PBX1
):c.870del;(p.Y291Tfs*5)
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:
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Translational Psychiatry
Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D
Publication Date: 2020-02-24
Variant appearance in text: PBX1: 869delG
PubMed Link:
32094338
Variant Present in the following documents:
41398_2020_760_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page