Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.R69Q
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CHMP2B

NM_014043.4:p.R69Q

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

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_I.xlsx › Variant_list

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2018

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S et al.

Brain : a Journal of Neurology, 2017

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_pathogenic_heterozygous

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Li HF et al.

Translational Neurodegeneration, 2016

Genetic overlap between apparently sporadic motor neuron diseases.

van Blitterswijk M et al.

Plos One, 2012

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Ghanim M et al.

Journal of Neurology, 2010

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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."