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Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools

Short tandem repeats (STRs) are scattered throughout the human genome. Some STRs, like trinucleotide repeat expansion (TRE) variants, cause hereditable disorders. Unambiguous molecular diagnostics of TRE disorders is hampered by current technical limitations imposed by traditional PCR and DNA sequen...

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Detalles Bibliográficos
Autores principales:	de Leeuw, Rick H., Garnier, Dominique, Kroon, Rosemarie M. J. M., Horlings, Corinne G. C., de Meijer, Emile, Buermans, Henk, van Engelen, Baziel G. M., de Knijff, Peter, Raz, Vered
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460572/ https://www.ncbi.nlm.nih.gov/pubmed/30455479 http://dx.doi.org/10.1038/s41431-018-0302-4

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