Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q503*
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GRN

NM_002087.4:p.Q503*

Associated Papers

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

Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.

Ng ASL et al.

Neurobiology of Aging, 2018

Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.

Aswathy PM et al.

Neurobiology of Aging, 2016

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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."