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Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variations, the interpretation of novel missense variants remains challenging, particularly for clinical or genetic testing laboratories where functional analysis is often unfeasible. Previous stud...

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Publicat a:J Endocr Soc
Autors principals: Caswell, Richard C, Owens, Martina M, Gunning, Adam C, Ellard, Sian, Wright, Caroline F
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6846327/
https://ncbi.nlm.nih.gov/pubmed/31737856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-00260
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