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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Endocr Soc |
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| Κύριοι συγγραφείς: | , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Endocrine Society
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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