Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.A9D
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IGFALS

NM_004970.3:p.A9D

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

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Acta Neuropathologica, 2010

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.

Finch N et al.

Brain : a Journal of Neurology, 2009

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

Gijselinck I et al.

Human Mutation, 2008

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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."