Litcius/Paper detail

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sárközy, Sushan Luo, Jordi Díaz‐Manera, Christoffer Ehrstedt, Ricardo Rojas‐García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, H. Luque, Philippe Petiot, Adolfo López de Munaín, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo M. Santorelli, Claudio Bruno, Thierry Küntzer, Isabel Illa, Juan J. Vílchez, Cédric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar‐Borota, Mark R. Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd

2020Genetics in Medicine80 citationsDOIOpen Access PDF

Topics & Concepts

PhenotypeGeneticsGenotypeBiologyGenotype-phenotype distinctionMedicineGeneCardiomyopathy and Myosin StudiesConnective tissue disorders researchNeurogenetic and Muscular Disorders Research