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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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Dades bibliogràfiques
Publicat a:J Endocr Soc
Autors principals: Ittisoponpisan, Sirawit, David, Alessia
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6041779/
https://ncbi.nlm.nih.gov/pubmed/30019023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2018-00077
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