Varaico: Literature-Extracted Genetic Variants

Gene:RAI1
Variant:p.Q279Q
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RAI1

NM_030665.4:p.Q279Q

Associated Papers

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.

Ganesamoorthy D et al.

Bmc Cancer, 2022

35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 098_P0

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T et al.

Plos One, 2011

Smith-Magenis syndrome.

Elsea SH et al.

European Journal of Human Genetics : Ejhg, 2008

New developments in Smith-Magenis syndrome (del 17p11.2).

Gropman AL et al.

Current Opinion in Neurology, 2007

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

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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."