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Study of functional variants in homozygous islands in Nelore cattle
(Oxford Univ Press Inc, 2019-12-01)
Profiling of WDR36 Missense Variants in German Patients with Glaucoma
(2008-02)
PURPOSE. Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of ...
Profiling of WDR36 Missense Variants in German Patients with Glaucoma
(2008-02)
PURPOSE. Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of ...
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
(Elsevier Ireland, 2021-08)
Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead ...
Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy
(Elsevier B.V., 2020-11-01)
The most common form of genetic generalized epilepsy (GGE) is juvenile myodonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it ...
Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel
(Elsevier, 2015)
Objective: Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. ...
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
(2022)
Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene. Case ...
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
(Nature Publishing Group, 2019)
Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in ...