Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.I138M
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PRNP

NM_000311.5:p.I138M

Associated Papers

Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.

Otaki H et al.

Acs Omega, 2022

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Giachin G et al.

Molecules (basel, Switzerland), 2013

Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Kedarisetti KD et al.

Bioinformatics and Biology Insights, 2008

Sporadic and familial CJD: classification and characterisation.

Gambetti P et al.

British Medical Bulletin, 2003

Mutations of the prion protein gene phenotypic spectrum.

Kovács GG et al.

Journal of Neurology, 2002

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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."