Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.W82*
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ARL13B

NM_001174150.2:p.W82*

Associated Papers

Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models.

Guo J et al.

Developmental Cell, 2019

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

Rafiullah R et al.

European Journal of Human Genetics : Ejhg, 2017

Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity.

Guo J et al.

Developmental Cell, 2017

Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts.

Li Y et al.

Journal of the American Society of Nephrology : Jasn, 2016

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG et al.

Journal of Medical Genetics, 2016

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Thomas S et al.

European Journal of Human Genetics : Ejhg, 2015

Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.

Higginbotham H et al.

Developmental Cell, 2012

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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."