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: BBS7: 763A>T; Lys255*

PubMed Link: 31196119

Variant Present in the following documents:

• Main text
• 13052_2019_Article_659.pdf

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