Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.G142D
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PRNP

NM_000311.5:p.G142D

Associated Papers

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Otaify GA et al.

American Journal of Medical Genetics. Part A, 2023

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Di Fede G et al.

Acta Neuropathologica Communications, 2019

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

Kedarisetti KD et al.

Bioinformatics and Biology Insights, 2008

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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."