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Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis
(Wiley-liss, Div John Wiley & Sons Inc, 2019-09-25)
Massive parallel sequencing technologies are facilitating the faster identification of sequence variants with the consequent capability of untangling the molecular bases of many human genetic syndromes. However, it is not ...
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 ...
Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes
(2023)
Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular diseases, respectively. Unhealthy lifestyles, ...
Identificação de genes de predisposição ao desenvolvimento de câncer de tiroide familial não medular por análise de dados de exoma
(Universidade Federal de São Paulo, 2022)
O câncer de tiroide familial pode ser classificado em medular (CMT), associado a Neoplasia Endócrina Múltipla do tipo 2 (MEN2); ou em carcinoma familial não-medular da tiroide (FNMTC).
O FNMTC constitui de 3 a 9% de ...
Caracterización funcional de variantes (SNV, Indels, CNVs) analizadas por medios computacionales en 5 familias dominicanas con labio y/o paladar hendido no sindrómico
(Universidad Nacional de ColombiaBogotá - Medicina - Maestría en Genética HumanaFacultad de MedicinaBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá, 2023)
Introducción: El labio y/o paladar hendido es una anomalía congénita, la más frecuente a nivel facial. Puede tener una etiología multifactorial o genética. En República Dominicana y en particular la región de Cibao, se ...