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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes
In pathogenicity assessment, RNA-based analyses are important for the correct classification of variants, and require gene-specific cut-offs for allelic representation and alternative/aberrant splicing. Beside this, the diagnostic yield of RNA-based techniques capable to detect aberrant splicing or...
Tallennettuna:
| Julkaisussa: | Eur J Hum Genet |
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| Päätekijät: | , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer International Publishing
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6870986/ https://ncbi.nlm.nih.gov/pubmed/31332305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0472-8 |
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