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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:
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