Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

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Bibliographic Details
Published in:	Genetics in Medicine Vol. 23; pp. 1912 - 1921
Main Authors:	Maria resa Te Carminho A. Rodrigues, Louise Bier, Chong Ae Kim, Charles Conlon, Jaehoon Jeong, Vimla Aggarwal, Joel Victor Fluss, Michelle Primiano, Halie J. May, Katherine W. Roche, Anya Revah-Politi, Anna Chassevent, Aida Telegrafi, Evan H. Baugh, Marwan Shinawi, Armand Bottani, Julia Rankin, David Goldstein, Julie S. Cohen, Yuri Uchiyama, Naomichi Matsumoto, Michel Guipponi, Samantha Toy, Richard E. Person, Julia Baptista, Kwame Anyane-Yeboa, Constance Smith-Hicks
Format:	Journal Article
Language:	Japanese
Published:	Elsevier BV 01.10.2021
Subjects:	Exome Sequencing HEK293 Cells Humans info:eu-repo/classification/ddc/576.5 info:eu-repo/classification/ddc/618 Nerve Tissue Proteins Nerve Tissue Proteins / genetics Neurodevelopmental Disorders Neurodevelopmental Disorders / genetics Neurons Phenotype
ISSN:	1098-3600
Online Access:	Get full text
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ISSN:	1098-3600
DOI:	10.1038/s41436-021-01222-w