Varaico: Literature-Extracted Genetic Variants

Gene:SS18L1
Variant:p.I123M
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SS18L1

NM_198935.3:p.I123M

Associated Papers

Rapidly progressive bulbar-onset ALS due to SS18L1 mutation.

Pinto WBVR et al.

Revue Neurologique, 2020

Loss of CREST leads to neuroinflammatory responses and ALS-like motor defects in mice.

Cheng C et al.

Translational Neurodegeneration, 2019

Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis.

Kukharsky MS et al.

Molecular Neurodegeneration, 2015

The role of BAF (mSWI/SNF) complexes in mammalian neural development.

Son EY et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

Teyssou E et al.

Neurobiology of Aging, 2014

Creating a neural specific chromatin landscape by npBAF and nBAF complexes.

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Chesi A et al.

Nature Neuroscience, 2013

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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."