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Identification and Characterization of Known Biallelic Mutations in the IFT27 ( BBS19 ) Gene in a Novel Family With Bardet-Biedl Syndrome
by
Schaefer, Elise
,
Delvallée, Clarisse
,
Mary, Laura
,
Stoetzel, Corinne
,
Geoffroy, Véronique
,
Marks-Delesalle, Caroline
,
Holder-Espinasse, Muriel
,
Ghoumid, Jamal
,
Dollfus, Hélène
,
Muller, Jean
Published in
Frontiers in genetics
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Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrom
by
Schaefer, Elise
,
Delvallee, Clarisse
,
Mary, Laura
,
Stoetzel, Corinne
,
Geoffroy, Véronique
,
Marks-Delesalle, Caroline
,
Holder-Espinasse, Muriel
,
Ghoumid, Jamal
,
Dollfus, Hélène
,
Muller, Jean
Published in
Frontiers in genetics
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Article
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Frontiers In Genetics
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Genetics
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Bardet-Biedl Syndrome
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Bbs19
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Ciliopathy
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Ift27 Gene
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Life Sciences
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Whole Exome Sequencing
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