Varaico: Literature-Extracted Genetic Variants

Gene:CCL18
Variant:p.L29fs
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CCL18

NM_002988.4:p.L29fs

Associated Papers

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 2023

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

Rolfs A et al.

Plos One, 2013

24278166 (PubMed )
Supplement: pone.0079732.s001.pdf
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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."