Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.T251_V252delFs
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GRN

NM_002087.4:p.T251_V252delFs

Associated Papers

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2023

38077003 (PubMed )
Supplement: media-4.xlsx › Reported_ALS_or_FTD_mut.

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

Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.

Licata A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

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

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Blauwendraat C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28749476 (PubMed )
Supplement: gim2017102x2.xlsx › Supplementary_Material_S2

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 2011

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Mackenzie IR et al.

Neurogenetics, 2007

The genetics of frontotemporal lobar degeneration.

Rademakers R et al.

Current Neurology and Neuroscience Reports, 2007

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

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