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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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Detalles Bibliográficos
Autores principales:	Caswell, Richard C, Owens, Martina M, Gunning, Adam C, Ellard, Sian, Wright, Caroline F
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6846327/ https://www.ncbi.nlm.nih.gov/pubmed/31737856 http://dx.doi.org/10.1210/js.2019-00260

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