Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G148delFs
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GRN

NM_002087.4:p.G148delFs

Associated Papers

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Nóbrega PR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.

Chu M et al.

Journal of Alzheimer's Disease : Jad, 2023

36970912 (PubMed )
Supplement: jad-93-jad230052-s001.pdf

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

Huin V et al.

Brain : a Journal of Neurology, 2020

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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."