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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contribution of splicing assay data to the classification...

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Detalles Bibliográficos
Autores principales:	Thompson, Bryony A., Walters, Rhiannon, Parsons, Michael T., Dumenil, Troy, Drost, Mark, Tiersma, Yvonne, Lindor, Noralane M., Tavtigian, Sean V., de Wind, Niels, Spurdle, Amanda B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398121/ https://www.ncbi.nlm.nih.gov/pubmed/32849802 http://dx.doi.org/10.3389/fgene.2020.00798

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