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Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders

CONTEXT: Variants of uncertain significance (VUSs) lack sufficient evidence, in terms of statistical power or experimental studies, to allow unequivocal determination of their damaging effect. VUSs are a major burden in performing genetic analysis. Although in silico prediction tools are widely used...

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Detalles Bibliográficos
Autores principales:	Ittisoponpisan, Sirawit, David, Alessia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2018
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041779/ https://www.ncbi.nlm.nih.gov/pubmed/30019023 http://dx.doi.org/10.1210/js.2018-00077

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