Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.R155H
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MAPT

NM_001377265.1:p.R155H

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-15.xlsx › Supplementary_Table_2

Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models.

Ahmed M et al.

Molecular Neurobiology, 2023

FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.

Guettsches AK et al.

Biomedicines, 2022

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

New genes, new dilemmas: FTLD genetics and its implications for families.

Goldman JS et al.

American Journal of Alzheimer's Disease and Other Dementias, 0

Recent advances in the molecular genetics of frontotemporal lobar degeneration.

Rainero I et al.

Functional Neurology, 0

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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."