Varaico: Literature-Extracted Genetic Variants

Gene:SCNM1
Variant:p.R187*
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SCNM1

NM_024041.4:p.R187*

Associated Papers

Clinical and genetic analysis of a family with two rare reflex epilepsies.

Kasteleijn-Nolst Trenité DG et al.

Seizure, 2015

A targeted deleterious allele of the splicing factor SCNM1 in the mouse.

Howell VM et al.

Genetics, 2008

Evidence for a direct role of the disease modifier SCNM1 in splicing.

Howell VM et al.

Human Molecular Genetics, 2007

The splicing machinery is a genetic modifier of disease severity.

Nissim-Rafinia M et al.

Trends in Genetics : Tig, 2005

SCNM1, a putative RNA splicing factor that modifies disease severity in mice.

Buchner DA et al.

Science (new York, N.y.), 2003

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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."