Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF28
Variant:p.E31E
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ARHGEF28

NM_001177693.2:p.E31E

Associated Papers

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_II.docx

RNA metabolism in ALS: when normal processes become pathological.

Droppelmann CA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014

Informatics-assisted protein profiling in a transgenic mouse model of amyotrophic lateral sclerosis.

Lukas TJ et al.

Molecular & Cellular Proteomics : Mcp, 2006

RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration.

Lin H et al.

Human Molecular Genetics, 2005

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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."