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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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Detalles Bibliográficos
Autores principales:	Nascimbeni, Anna Chiara, Fanin, Marina, Tasca, Elisabetta, Angelini, Corrado
Formato:	Texto
Lenguaje:	English
Publicado:	Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:	Mutation in Brief
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

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