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A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Authors
Maria Borroto,Camille Michaud
Chloé Hudon,Pankaj Agrawal,Katherine Agre,Carolyn Applegate,Alan Beggs,Hans Björnsson,Bert Callewaert,Mei-Jan Chen,Cynthia Curry,Orrin Devinsky,Tracy Dudding‐Byth,K Fagan,Candice Finnila,Ralitza Gavrilova,Casie Genetti,Susan Hiatt,Friedhelm Hildebrandt,Monica Wojcik,Matthew State,Caroline Kolvenbach,Bruce Korf,Paul Kruszka,Hong Li,Jessica Litwin,Julien Marcadier,Konrad Platzer,Patrick Blackburn,Margot Reijnders,Heiko Reutter,Ina Schanze,Joseph Shieh,Cathy Stevens,Zaheer Valivullah,Marie‐José Boogaard,Eric Klee
+35 authors
,Philippe CampeauJournal
Published
Aug 6, 2024
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Abstract
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in
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