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Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9

Emilia Stellacci,Marcello Niceta,Alessandro Bruselles, Emilio Straface,Massimo Tatti, Mattia Carvetta,Cecilia Mancini,Serena Cecchetti,Mariacristina Parravano,Lucilla Barbano,Monica Varano,Marco Tartaglia,Lucia Ziccardi,Viviana Cordeddu

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）

Cited 0|Views7
Key words
whole genome sequencing,BBS9,structural variant,Bardet-Biedl syndrome,ciliopathy
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