Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.E393_A394Splc
Back to variants list

GRN

NM_002087.4:p.E393_A394Splc

Associated Papers

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

Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.

Bartoletti-Stella A et al.

Neurobiology of Aging, 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

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."