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BBS2 c.612+311T>C
Variant ID: 16-56543558-A-G
NM_031885.3(
BBS2
):c.612+311T>C
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:
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: BBS2: 612+311T>C; rs9937444
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Gene expression and genetic variation data implicate PCLO in bipolar disorder.
Biological Psychiatry
Choi, Kwang H KH; Higgs, Brandon W BW; Wendland, Jens R JR; Song, Jonathan J; McMahon, Francis J FJ; Webster, Maree J MJ
Publication Date: 2011-02-15
Variant appearance in text: rs9937444
PubMed Link:
21185011
Variant Present in the following documents:
Main text
View BVdb publication page