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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Maria Kousi, Onuralp Söylemez, Ayşegül Ozantürk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill A. Rosenfeld, Maxim Y. Wolf, Azita Sadeghpour, Kelsey McFadden, Richard A. Lewis, Michael E. Talkowski, Hélène Dollfus, Manolis Kellis, Erica E. Davis, Shamil Sunyaev, Nicholas Katsanis

2020Nature Genetics36 citationsDOIOpen Access PDF

Topics & Concepts

CiliopathyBiologyGeneticsEvolutionary biologyComputational biologyGenePhenotypeGenetic and Kidney Cyst DiseasesProtist diversity and phylogenyGenetic Syndromes and Imprinting
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy | Litcius