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Transcriptional and Translational Effects of Intronic CAPN3 Gene Mutations
Variants of unknown significance in the CAPN3 gene constitute a significant challenge for genetic counselling. Despite the frequency of intronic nucleotide changes in this gene (15–25% of all mutations), so far their pathogenicity has only been inferred by in-silico analysis, and occasionally, prove...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2966865/ https://www.ncbi.nlm.nih.gov/pubmed/20635405 http://dx.doi.org/10.1002/humu.21320 |