Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q257fs
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GRN

NM_002087.4:p.Q257fs

Associated Papers

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

Acosta-Uribe J et al.

Npj Dementia, 2026

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Cogan G et al.

Brain : a Journal of Neurology, 2025

41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2

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

Acosta-Uribe J et al.

Research Square, 2025

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Maximiano-Alves G et al.

Neurogenetics, 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

Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.

Almeida MR et al.

International Journal of Molecular Sciences, 2023

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Guelbert G et al.

Frontiers in Neurology, 2022

Reply: Early-onset phenotype of bi-allelic GRN mutations.

Huin V et al.

Brain : a Journal of Neurology, 2021

Early-onset phenotype of bi-allelic GRN mutations.

Neuray C et al.

Brain : a Journal of Neurology, 2021

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Huin V et al.

Brain : a Journal of Neurology, 2020

Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort.

Almeida MR et al.

Neuro-degenerative Diseases, 2014

Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation.

Pires C et al.

Journal of Alzheimer's Disease : Jad, 2013

GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.

Takada LT et al.

Alzheimer Disease and Associated Disorders, 0

Genetics of dementia: insights from Latin America.

Ramos C et al.

Dementia & Neuropsychologia, 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."