Varaico: Literature-Extracted Genetic Variants

Gene:SS18L1
Variant:p.Q388*
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SS18L1

NM_198935.3:p.Q388*

Associated Papers

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Modelling amyotrophic lateral sclerosis in rodents.

Todd TW et al.

Nature Reviews. Neuroscience, 2022

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

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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."