Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Ghazanfar Ali*, Sadia, Jia Nee Foo, Abdul Nasir, Chu Hua Chang, Elaine Guoyan Chew, Zahid Latif, Zahid Azeem, Syeda Ain-Ul-Batool, Syed Akif Raza Kazmi, Naheed Bashir Awan, Abdul Hameed Khan, Fazal Ur Rehman, Madiha Khalid, Abdul Wali, Samina Sarwar, Wasim Akhtar, Ansar Ahmed Abbasi, Rameez Nisar

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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