Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.G286S
Back to variants list

ARX

NM_139058.3:p.G286S

Associated Papers

Mutations of ARX and non-syndromic intellectual disability in Chinese population.

Wu Y et al.

Genes & Genomics, 2019

Expanding the phenotype associated with missense mutations of the ARX gene.

Charzewska A et al.

American Journal of Medical Genetics. Part A, 2013

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

Ekşioğlu YZ et al.

Epilepsia, 2011

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C et al.

Human Mutation, 2010

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Laperuta C et al.

Bmc Medical Genetics, 2007

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Poirier K et al.

Neurogenetics, 2006

The role of ARX in cortical development.

Friocourt G et al.

The European Journal of Neuroscience, 2006

X-linked mental retardation: further lumping, splitting and emerging phenotypes.

Kleefstra T et al.

Clinical Genetics, 2005

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M et al.

Human Mutation, 2004

Alanine tracts: the expanding story of human illness and trinucleotide repeats.

Brown LY et al.

Trends in Genetics : Tig, 2004

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.

Sherr EH

Current Opinion in Pediatrics, 2003

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.

Frints SG et al.

Clinical Genetics, 2002

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T et al.

Human Molecular Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."