Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
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author: Enrico Bertini, Bruno Dallapiccola, Enza Maria Valente, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Lorena Travaglini, Tania Attié-Bitach, Eugen Boltshauser, Joseph G Gleeson, Chiara Pantaleoni, Sophie Thomas, Dominika Swistun, Miriam Iannicelli, Nadia Elkhartoufi, International JSRD Study Group
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