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Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island
Fahad A Alghaith1, Sara MacKay2, Karin Wallace3
1Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Clinical Genetics
|August 23, 2023
Abstract:
This study reports variants in BBS1 and BBS7 in patients with Bardet-Biedl syndrome from the Canadian Maritime provinces. The BBS1 variant NM_024649.5:c.1169T>G was identified as a recurrent variant in Prince Edward Island.
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