Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: BBS2: N354K

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: 1062C>G

PubMed Link: 31196119

Variant Present in the following documents:

• Main text
• 13052_2019_Article_659.pdf

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