Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Nedelea, Laurențiu Bohîlțea, Lavinia Caba, Lăcrămioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Chirita-Emandi, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean, Erica E. Davis

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3 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology