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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

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Description scientific article published on 09 November 2020
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author: Jean-Louis Mandel  Sophie Scheidecker  Elsa Nourisson  Joakim Klar  Manuela Antin  Boris Keren  Sylvie Odent  Christel Depienne  Jean-François Deleuze  Corinne Stoetzel  Michèle Mathieu-Dramard  Hélène Dollfus  Jean Muller 

Publication date November 9, 2020
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