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SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening

Next Generation Sequencing (NGS) technologies are rapidly entering clinical practice. A promising area for their use lies in the field of newborn screening. The mass screening of newborns using NGS technology leads to the discovery of a large number of new missense variants that need to be assessed...

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Detalles Bibliográficos
Autores principales:	Zadorozhny, Anton D., Rudik, Anastasia V., Filimonov, Dmitry A., Lagunin, Alexey A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917004/ https://www.ncbi.nlm.nih.gov/pubmed/36768784 http://dx.doi.org/10.3390/ijms24032463

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