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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

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author: Tania Attié-Bitach  Soumaya Mougou-Zerelli  Bruno Dallapiccola  Sophie Thomas  Annalisa Mazzotta  Eugen Boltshauser  Joseph G Gleeson  Lorena Travaglini  Chiara Pantaleoni  Enza Maria Valente  Nadia Elkhartoufi  Dominika Swistun  International JSRD Study Group  Miriam Iannicelli  Enrico Bertini 

Publication date May 1, 2010
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