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  • 1-10 ل  189 نتائج ل ""nonsense variant""

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Academic Journal

A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.

Subjects: Embryo; Nonmammalian; Animals

  • Source: PLoS genetics. 16(9)

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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

Subjects: Male; Marfan syndrome; Pathology

  • Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)BMC Medical Genetics

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A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Subjects: Exome sequencing; Male; 0301 basic medicine

  • Source: BMC Medical GeneticsBMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

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Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

  • Source: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 639-644 (2021)Annals of Clinical and Translational Neurology

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De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge–Ropers syndrome: A case report and review of literature

Subjects: medicine.medical_specialty; China; media_common.quotation_subject

  • Source: Molecular Genetics & Genomic Medicine. 10

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A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Subjects: media_common.quotation_subject; Nonsense; Biology

  • Source: Eur J Hum Genet

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Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Subjects: Adult; Male; focal segmental glomerulosclerosis

  • Source: Molecular Genetics and Genomic MedicineMolecular Genetics and Genomic Medicine, Wiley, 2021, 9 (5), ⟨10.1002/mgg3.1658⟩Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a

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A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals

Subjects: Male; Cancer Research; Embryo, Nonmammalian

  • Source: PLoS genetics, vol 16, iss 9PLoS GeneticsPLoS Genetics, Vol 16, Iss 9, p e1009028 (2020)

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A novel, homozygous nonsense variant of theCDHR1gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis

Subjects: Male; 0301 basic medicine; genetic structures

  • Source: Journal of Cellular and Molecular Medicine

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A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep

Subjects: Male; sheep; primary cilia dyskinesia (PCD)

  • Source: GenesGenes, Vol 13, Iss 45, p 45 (2022)Braiek, Ben; Moreno-Romieux, Carole; Allain, Charlotte; Bardou, Philippe; Bordes, Arnaud; Debat, Frédéric; Drögemüller, Cord; Plisson-Petit,

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  • 1-10 ل  189 نتائج ل ""nonsense variant""