Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.F6L
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ITM2B

NM_021999.5:p.F6L

Associated Papers

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

40314981 (PubMed )
Supplement: pnas.2415521122.sapp.pdf

Tau PTM Profiles Identify Patient Heterogeneity and Stages of Alzheimer's Disease.

Wesseling H et al.

Cell, 2020

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