Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.I30_Q31insFs
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RPS27A

NM_002954.6:p.I30_Q31insFs

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

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

Beck J et al.

Brain : a Journal of Neurology, 2008

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M et al.

Nature, 2006

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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."