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Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Ali G, Sadia, Foo JN, Nasir A, Chang CH, Chew EG, Latif Z, Azeem Z, Ain-Ul-Batool S, Kazmi SAR, Awan NB, Khan AH, Rehman FU, Khalid M, Wali A, Sarwar S, Akhtar W, Ahmed Abbasi A, Nisar R. Ali G, et al. Among authors: awan nb. Biomed Res Int. 2021 Feb 23;2021:6626015. doi: 10.1155/2021/6626015. eCollection 2021. Biomed Res Int. 2021. PMID: 33688495 Free PMC article.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N. Ali G, et al. Among authors: awan nb. Genet Res (Camb). 2023 Oct 4;2023:9999660. doi: 10.1155/2023/9999660. eCollection 2023. Genet Res (Camb). 2023. PMID: 37829154 Free PMC article.