Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.D18G
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PRNP

NM_000311.5:p.D18G

Associated Papers

Hereditary transthyretin-related amyloidosis.

Finsterer J et al.

Acta Neurologica Scandinavica, 2019

Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP.

Peters SL et al.

Human Molecular Genetics, 2016

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.

Revesz T et al.

Acta Neuropathologica, 2009

Human brain amyloidoses.

Gambetti P et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 1998

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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."