Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAPL1
Variant:p.C31R
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IL1RAPL1

NM_014271.4:p.C31R

Associated Papers

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

Gürsoy S et al.

Pediatric Neurology, 2025

The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1).

Montani C et al.

Developmental Neurobiology, 2019

The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.

Montani C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

Laino L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Ramos-Brossier M et al.

Human Molecular Genetics, 2015

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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."