Publications:

Understanding mutational effects in digenic diseases.

Nucleic Acids Research

Gazzo, Andrea A; Raimondi, Daniele D; Daneels, Dorien D; Moreau, Yves Y; Smits, Guillaume G; Van Dooren, Sonia S; Lenaerts, Tom T

Publication Date: 2017-09-06

Variant appearance in text: BBS: Y113*

PubMed Link: 28911095

Variant Present in the following documents:

• Main text
• gkx557.pdf

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

Plos One

de Castro-Miró, Marta M; Tonda, Raul R; Escudero-Ferruz, Paula P; Andrés, Rosa R; Mayor-Lorenzo, Andrés A; Castro, Joaquín J; Ciccioli, Marcela M; Hidalgo, Daniel A DA; Rodríguez-Ezcurra, Juan José JJ; Farrando, Jorge J; Pérez-Santonja, Juan J JJ; Cormand, Bru B; Marfany, Gemma G; Gonzàlez-Duarte, Roser R

Publication Date: 2016

Variant appearance in text: BBS2: 339C>G; Y113*

PubMed Link: 28005958

Variant Present in the following documents:

• pone.0168966.pdf

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

American Journal Of Human Genetics

Beales, Philip L PL; Badano, Jose L JL; Ross, Alison J AJ; Ansley, Stephen J SJ; Hoskins, Bethan E BE; Kirsten, Brigitta B; Mein, Charles A CA; Froguel, Philippe P; Scambler, Peter J PJ; Lewis, Richard Alan RA; Lupski, James R JR; Katsanis, Nicholas N

Publication Date: 2003-05

Variant appearance in text: BBS: Y113X

PubMed Link: 12677556

Variant Present in the following documents:

• Main text

View BVdb publication page