Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.G206delFs
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ARX

NM_139058.3:p.G206delFs

Associated Papers

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Mattiske T et al.

Human Mutation, 2017

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C et al.

Human Mutation, 2010

Genotypically defined lissencephalies show distinct pathologies.

Forman MS et al.

Journal of Neuropathology and Experimental Neurology, 2005

X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".

Kato M et al.

Journal of Child Neurology, 2005

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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."