Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q88*
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RAI1

NM_030665.4:p.Q88*

Associated Papers

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Acquaviva F et al.

American Journal of Medical Genetics. Part A, 2017

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Falco M et al.

The Application of Clinical Genetics, 2017

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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."