Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q1846*
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RAI1

NM_030665.4:p.Q1846*

Associated Papers

Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.

Korteling D et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024

Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.

Kuroda Y et al.

American Journal of Medical Genetics. Part A, 2022

35833697 (PubMed )
Supplement: supplement_1.pdf

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Rinaldi B et al.

Genes, 2022

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Yeetong P et al.

American Journal of Medical Genetics. Part A, 2016

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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."