Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.N370S
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PC

NM_001040716.2:p.N370S

Associated Papers

Glucosylceramide Associated with Gaucher Disease Forms Amyloid-like Twisted Ribbon Fibrils That Induce α-Synuclein Aggregation.

Paul A et al.

Acs Nano, 2021

How we manage Gaucher Disease in the era of choices.

Revel-Vilk S et al.

British Journal of Haematology, 2018

Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease.

Jian J et al.

Ebiomedicine, 2018

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease.

Zimran A et al.

Blood Cells, Molecules & Diseases, 2013

Pharmacological chaperone therapy for Gaucher disease: a patent review.

Benito JM et al.

Expert Opinion on Therapeutic Patents, 2011

Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.

Rigat B et al.

Molecular Genetics and Metabolism, 2009

Neuropathology provides clues to the pathophysiology of Gaucher disease.

Wong K et al.

Molecular Genetics and Metabolism, 2004

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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."