Associated Papers
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE et al.
Molecular Psychiatry, 2023
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.
Li S et al.
Frontiers in Neurology, 2023
37789889 (PubMed )
Supplement: Data_Sheet_1.PDF
Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.
Guzman RE et al.
Frontiers in Molecular Neuroscience, 2022
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE et al.
Molecular Psychiatry, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
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