Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10528-023-10637-w.pdf
Reference29 articles.
1. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36(6):437–446
2. Bhanuprakash V, Chhotaray S, Pruthviraj DR, Rawat C, Karthikeyan A, Panigrahi M (2018) Copy number variation in livestock: a mini review. Vet World 11(4):535–541
3. Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, González-del Pozo M, Rodríguez-de la Rúa E, Dopazo J et al (2016) Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep 6:23910
4. Carr IM, Bhaskar S, O’Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF et al (2013) Autozygosity mapping with exome sequence data. Hum Mutat 34(1):50–56
5. Dallali H, Kheriji N, Kammoun W, Mrad M, Soltani M, Trabelsi H et al (2021) Multiallelic rare variants in BBS genes support an oligogenic ciliopathy in a non-obese juvenile-onset syndromic diabetic patient: a case report. Front Genet 12:664963
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