Varaico: Literature-Extracted Genetic Variants

Gene:CCL18
Variant:p.E28K
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CCL18

NM_002988.4:p.E28K

Associated Papers

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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