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BBS2 c.1531_1539del ;(p.V511_W513del)
Variant ID: 16-56532469-GCCATACAAC-G
NM_031885.3(
BBS2
):c.1531_1539del;(p.V511_W513del)
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:
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Italian Journal Of Pediatrics
Manara, Elena E; Paolacci, Stefano S; D'Esposito, Fabiana F; Abeshi, Andi A; Ziccardi, Lucia L; Falsini, Benedetto B; Colombo, Leonardo L; Iarossi, Giancarlo G; Pilotta, Alba A; Boccone, Loredana L; Guerri, Giulia G; Monica, Marica M; Marta, Balzarini B; Maltese, Paolo Enrico PE; Buzzonetti, Luca L; Rossetti, Luca L; Bertelli, Matteo M
Publication Date: 2019-06-13
Variant appearance in text: BBS: 1531_1539del
PubMed Link:
31196119
Variant Present in the following documents:
Main text
13052_2019_Article_659.pdf
View BVdb publication page