Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
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| Published in: | Genetics in Medicine Vol. 23; pp. 1912 - 1921 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | Japanese |
| Published: |
Elsevier BV
01.10.2021
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| Subjects: | |
| ISSN: | 1098-3600 |
| Online Access: | Get full text |
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| Author | Chong Ae Kim Katherine W. Roche Julia Rankin Julie S. Cohen Armand Bottani Naomichi Matsumoto Louise Bier Richard E. Person Michel Guipponi Halie J. May Michelle Primiano Charles Conlon Aida Telegrafi Julia Baptista Kwame Anyane-Yeboa Joel Victor Fluss Yuri Uchiyama Marwan Shinawi Anya Revah-Politi Anna Chassevent Maria resa Te Carminho A. Rodrigues Evan H. Baugh Constance Smith-Hicks Jaehoon Jeong David Goldstein Samantha Toy Vimla Aggarwal |
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| DOI | 10.1038/s41436-021-01222-w |
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| EndPage | 1921 |
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| PublicationDate | 2021-10-01 |
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| PublicationTitle | Genetics in Medicine |
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| StartPage | 1912 |
| SubjectTerms | 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 |
| Title | Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders |
| URI | https://cir.nii.ac.jp/crid/1873116917627732992 |
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