Varaico: Literature-Extracted Genetic Variants

Gene:PRND
Variant:p.P56L
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PRND

NM_012409.4:p.P56L

Associated Papers

Genetic studies in human prion diseases.

Jeong BH et al.

Journal of Korean Medical Science, 2014

Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients.

Geldermann H et al.

Gene, 2006

Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease.

Jeong BH et al.

Journal of Human Genetics, 2005

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.

Croes EA et al.

European Journal of Human Genetics : Ejhg, 2004

The human "prion-like" protein Doppel is expressed in both Sertoli cells and spermatozoa.

Peoc'h K et al.

The Journal of Biological Chemistry, 2002

Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.

Mead S et al.

American Journal of Human Genetics, 2001

Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders.

Schröder B et al.

Human Genetics, 2001

First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases.

Peoc'h K et al.

Neuroscience Letters, 2000

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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."