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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Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7398121/
https://ncbi.nlm.nih.gov/pubmed/32849802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00798
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