Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.R19Q
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CHMP2B

NM_014043.4:p.R19Q

Associated Papers

Guam ALS-PDC is a distinct double-prion disorder featuring both tau and Aβ prions.

Condello C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36952379 (PubMed )
Supplement: pnas.2220984120.sapp.pdf

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

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_Benign

Defining neurodegeneration on Guam by targeted genomic sequencing.

Steele JC et al.

Annals of Neurology, 2015

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