Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAPL1
Variant:p.E504*
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IL1RAPL1

NM_014271.4:p.E504*

Associated Papers

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

Emerging major synaptic signaling pathways involved in intellectual disability.

Pavlowsky A et al.

Molecular Psychiatry, 2012

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP et al.

Human Mutation, 2007

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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."