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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Hui Guo,Qiumeng Zhang,Rujia Dai,Bin Yu,Kendra Hoekzema,Jieqiong Tan,Senwei Tan,Xiangbin Jia,Wendy K. Chung,Rebecca Hernan,Fowzan S. Alkuraya,Ahood Alsulaiman,Mohammad A. Al-Muhaizea,Gaetan Lesca,Linda Pons,Audrey Labalme,Linda Laux,Emily Bryant,Natasha J. Brown,Elena Savva,Samantha Ayres,Dhamidhu Eratne,Hilde Peeters,Frederic Bilan, Lucile Letienne-Cejudo,Brigitte Gilbert-Dussardier,Inge-Lore Ruiz-Arana, Jenny Meylan Merlini,Alexia Boizot,Lucia Bartoloni,Federico Santoni,Danielle Karlowicz,Marie McDonald,Huidan Wu,Zhengmao Hu,Guodong Chen,Jianjun Ou,Charlotte Brasch-Andersen,Christina R. Fagerberg, Inken Dreyer,Anne Chun-hui Tsai,Valerie Slegesky,Rose B. McGee,Brina Daniels,Elizabeth A. Sellars,Lori A. Carpenter,Bradley Schaefer,Maria J. Guillen Sacoto,Amber Begtrup,Rhonda E. Schnur,Sumit Punj,Ingrid M. Wentzensen,Lindsay Rhodes,Qian Pan,Raphael A. Bernier,Chao Chen,Evan E. Eichler,Kun Xia

The American Journal of Human Genetics（2020）

引用 22|浏览111
关键词
NCKAP1,autism spectrum disorder,disruptive variant,de novo variants,genotype-phenotype correlation,neurodevelopmental disorder
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