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. 2023 Dec;104(6):713-715.
doi: 10.1111/cge.14418. Epub 2023 Aug 23.

Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island

Fahad A Alghaith  1 , Sara MacKay  2 , Karin Wallace  3 , Jeff Locke  4 , Johane M Robitaille  4 , Sarah Dyack  2   5 , Heleen H Arts  1
Affiliations

Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island

Fahad A Alghaith et al. Clin Genet. 2023 Dec.

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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References

REFERENCES

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