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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2020
Gaiak:
Genetics
Sarrera elektronikoa: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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