Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.*267S
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ITM2B

NM_021999.5:p.*267S

Associated Papers

Corrigendum to 'A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia'.

Unknown Author

Journal of Alzheimer's Disease : Jad, 2025

Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.

Martín M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.

Fang SY et al.

Annals of Clinical and Translational Neurology, 2025

BRI2-mediated regulation of TREM2 processing in microglia and its potential implications for Alzheimer's disease and related dementias.

Yin T et al.

Biorxiv : the Preprint Server for Biology, 2023

A Novel c.800G>C Variant of the ITM2B Gene in Familial Korean Dementia.

Rhyu JM et al.

Journal of Alzheimer's Disease : Jad, 2023

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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."