Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.R243C
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MAPT

NM_001377265.1:p.R243C

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

The role of PQBP1 in neural development and function.

Cheng S et al.

Biochemical Society Transactions, 2023

Drosophila transcription factor AP-2 in proboscis, leg and brain central complex development.

Monge I et al.

Development (cambridge, England), 2001

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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."