Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.E25A
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ITM2B

NM_021999.5:p.E25A

Associated Papers

Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis.

Tamayev R et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

Generation and initial characterization of FDD knock in mice.

Giliberto L et al.

Plos One, 2009

Genetic alterations of the BRI2 gene: familial British and Danish dementias.

Ghiso J et al.

Brain Pathology (zurich, Switzerland), 2006

Chromosome 13 dementias.

Rostagno A et al.

Cellular and Molecular Life Sciences : Cmls, 2005

Neurodegeneration caused by proteins with an aberrant carboxyl-terminus.

Vidal R et al.

Journal of Neuropathology and Experimental Neurology, 2004

Sequence, genomic structure and tissue expression of Human BRI3, a member of the BRI gene family.

Vidal R et al.

Gene, 2001

cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B.

Pittois K et al.

Gene, 1998

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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."