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A nonsense mutation of human XRCC4 is associated with adult‐onset progressive encephalocardiomyopathy by Leonardo Bee, Alessia Nasca, Alice Zanolini, Filippo Cendron, Pio d'Adamo, Rodolfo Costa, Costanza Lamperti, Lucia Celotti, Daniele Ghezzi, Massimo Zeviani
Published 2015-04-01Get full text
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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I by Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
Published 2020-09-01Get full text
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