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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...

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Autori principali: Nascimbeni, Anna Chiara, Fanin, Marina, Tasca, Elisabetta, Angelini, Corrado
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Subscription Services, Inc., A Wiley Company 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2966865/
https://ncbi.nlm.nih.gov/pubmed/20635405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21320
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