Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAPL1
Variant:p.T637S
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IL1RAPL1

NM_014271.4:p.T637S

Associated Papers

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."