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Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

A simultaneous analysis of nucleotide changes and copy number variations (CNVs) based on exome sequencing data was demonstrated as a potential new first-tier diagnosis strategy for rare neuropsychiatric disorders. In this report, using depth-of-coverage analysis from exome sequencing data, we descri...

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Dades bibliogràfiques
Publicat a:Genes (Basel)
Autors principals: Han, Ji Yoon, Park, Joonhong
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8303811/
https://ncbi.nlm.nih.gov/pubmed/34210021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12071001
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