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  • 1-10 ل  19 نتائج ل ""Cytoskeletal Proteins""
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Academic Journal

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.

  • Authors : Tareen JK; Molecular Biology and Bio Interfaces Engineering Lab, Department of Biological Sciences, Faculty of Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; Khan H

Subjects: Calcium Channels, L-Type*/Calcium Channels, L-Type*/Calcium Channels, L-Type*/genetics ; Calcium Channels, L-Type*/Calcium Channels, L-Type*/Calcium Channels, L-Type*/chemistry ; Cyclic Nucleotide-Gated Cation Channels*/Cyclic Nucleotide-Gated Cation Channels*/Cyclic Nucleotide-Gated Cation Channels*/genetics Night blindness, congenital stationary

  • Source: PloS one [PLoS One] 2025 Jul 30; Vol. 20 (7), pp. e0327176. Date of Electronic Publication: 2025 Jul 30 (Print Publication: 2025).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ , CASK , and MCPH1 in Consanguineous Pakistani Families.

  • Authors : Khan NM; Department of Bioinformatics and Biotechnology, Government College University Faisalabad, Faisalabad, Pakistan.; Masoud MS

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/epidemiology ; Microcephaly*/Microcephaly*/Microcephaly*/genetics Microcephaly, Primary Autosomal Recessive, 1

  • Source: BioMed research international [Biomed Res Int] 2022 Mar 03; Vol. 2022, pp. 3769948. Date of Electronic Publication: 2022 Mar 03 (Print Publication: 2022).Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6141

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Academic Journal

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

  • Authors : Khan S; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; RILD Wellcome Wolfson Centre, Royal Devon and Exeter Hospital, Exeter, UK.

Subjects: Mutation*; Ciliopathies/Ciliopathies/Ciliopathies/*diagnosis ; Ciliopathies/Ciliopathies/Ciliopathies/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2019 Nov; Vol. 83 (6), pp. 477-482. Date of Electronic Publication: 2019 Jun 07.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

  • Authors : Muzammal M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.; Zubair M

Subjects: Consanguinity* ; Founder Effect*; Bardet-Biedl Syndrome/Bardet-Biedl Syndrome/Bardet-Biedl Syndrome/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Aug; Vol. 7 (8), pp. e834. Date of Electronic Publication: 2019 Jul 11.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.

Subjects: Codon, Nonsense* ; Gene Deletion*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics Nephronophthisis, familial juvenile; Senior Loken Syndrome

  • Source: Iranian journal of kidney diseases [Iran J Kidney Dis] 2018 Jul; Vol. 12 (4), pp. 240-242.Publisher: Iranian Society of Nephrology Country of Publication: Iran NLM ID: 101316967 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

  • Authors : Maria M; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Subjects: ADP-Ribosylation Factors/ADP-Ribosylation Factors/ADP-Ribosylation Factors/*genetics ; Bardet-Biedl Syndrome/Bardet-Biedl Syndrome/Bardet-Biedl Syndrome/*genetics ; Genetic Association Studies/Genetic Association Studies/Genetic Association Studies/*methods

  • Source: Scientific reports [Sci Rep] 2016 Oct 06; Vol. 6, pp. 34764. Date of Electronic Publication: 2016 Oct 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  19 نتائج ل ""Cytoskeletal Proteins""