Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.P427L
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MAPT

NM_001377265.1:p.P427L

Associated Papers

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

Acosta-Uribe J et al.

Npj Dementia, 2026

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Research Square, 2025

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Garton FC et al.

Molecular Genetics & Genomic Medicine, 2017

28717666 (PubMed )
Supplement: MGG3-5-418-s001.xlsx › SuppTable_3_

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
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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."