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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genet Res (Camb). 2023 Oct 4;2023:9999660. doi: 10.1155/2023/9999660. eCollection 2023.
Genet Res (Camb). 2023.
PMID: 37829154
Free PMC article.
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.
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Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.
Ali G, Awan NB, Sadia, Khawaja AW, Foo JN, Khor CC, Chang CH, Chew EG, Kiani FR, Jelani M.
Ali G, et al. Among authors: awan nb.
J Gene Med. 2020 May;22(5):e3167. doi: 10.1002/jgm.3167. Epub 2020 Feb 17.
J Gene Med. 2020.
PMID: 32020700
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