Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.K257T
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SERPINA1

NM_000295.5:p.K257T

Associated Papers

Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N.

Kobayashi K et al.

Dementia and Geriatric Cognitive Disorders, 2004

Another phenotype of frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17) with a missense mutation of S305N closely resembling Pick's disease.

Kobayashi K et al.

Journal of Neurology, 2003

Tau gene mutations and tau pathology in frontotemporal dementia and parkinsonism linked to chromosome 17.

Spillantini MG et al.

Advances in Experimental Medicine and Biology, 2001

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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."