Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.Q163R
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ARX

NM_139058.3:p.Q163R

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

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

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

Sherr EH

Current Opinion in Pediatrics, 2003

The Xenopus arx gene is expressed in the developing rostral forebrain.

El-Hodiri HM et al.

Development Genes and Evolution, 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

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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."