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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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Détails bibliographiques
Publié dans:Front Genet
Auteurs principaux: 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
Langue:Inglês
Publié: Frontiers Media S.A. 2020
Sujets:
Accès en ligne: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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