Varaico: Literature-Extracted Genetic Variants

Gene:IGFALS
Variant:p.R493C
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IGFALS

NM_004970.3:p.R493C

Associated Papers

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Hosokawa M et al.

Scientific Reports, 2017

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Acta Neuropathologica, 2010

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."