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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Genes - 3 Feb 2023

Rao Ali Raza, Nazir Aamir, Imtiaz Samina, Paracha Sohail Aziz, Waryah Yar Muhammad, Ujjan Ikram Din, Anwar Ijaz, Iqbal Afia, Santoni Federico A, Shah Inayat, Gul Khitab, Baig Hafiz Muhammad Azhar, Waryah Ali Muhammad, Antonarakis Stylianos E, Ansar Muhammad

Abstract excerpt

This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome sequencing was conducted on one affected individual from each family. The computational functional analysis predicted the variants' pathogenic effects and modeled...

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PMID: 36833331
DOI: 10.3390/genes14020404
PMCID: PMC9956862

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