Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAPL1
Variant:p.I643V
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IL1RAPL1

NM_014271.4:p.I643V

Associated Papers

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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Ramos-Brossier M et al.

Human Molecular Genetics, 2015

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

Franek KJ et al.

American Journal of Medical Genetics. Part A, 2011

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Piton A et al.

Human Molecular Genetics, 2008

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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."