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CIAO1 and MMS19 Deficiency: a Lethal Neurodegenerative Phenotype Caused by Cytosolic Fe-S Cluster Protein Assembly Disorders

Clara D. M. van Karnebeek,Maja Tarailo-Graovac,Rene Leen,Rutger Meinsma,Solenne Correard, Judith Jansen-Meijer,Sergey V. Prykhozhij,Izabella A. Pena,Kevin Ban,Sarah Schock,Vishal Saxena,Mia L. Pras-Raves,Britt I. Drogemoller,Anita E. Grootemaat,Nicole N. van der Wel,Doreen Dobritzsch,Winfried Roseboom,Bauke V. Schomakers,Yorrick R. J. Jaspers,Lida Zoetekouw,Jeroen Roelofsen,Carlos R. Ferreira,Robin van der Lee,Colin J. Ross,Jakub Kochan,Rebecca L. McIntyre,Jan B. van Klinken,Michel van Weeghel,Gertjan Kramer,Bernhard Weschke,Philippe Labrune,Michel A. Willemsen,Daria Riva,Barbara Garavaglia,John B. Moeschler,James J. Filiano,Marc Ekker,Jason N. Berman,David Dyment,Frederic M. Vaz,Wyeth W. Wassermann,Riekelt H. Houtkooper,Andre B. P. van Kuilenburg

Genetics in medicine official journal of the American College of Medical Genetics（2024）

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关键词
CIAO1 and MMS19,Cofactor,Infection,Iron-sulfur clusters,Neurodegeneration
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