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.




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