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A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report

Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene va...

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Bibliografiske detaljer
Udgivet i:Exp Ther Med
Main Authors: Fang, Yu-Lian, Zhang, Rui-Ping, Wang, Yi-Zheng, Cao, Li-Rong, Zhang, Yu-Qin, Cai, Chun-Quan
Format: Artigo
Sprog:Inglês
Udgivet: D.A. Spandidos 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6812316/
https://ncbi.nlm.nih.gov/pubmed/31656537
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2019.8059
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