Varaico: Literature-Extracted Genetic Variants

Gene:CD33
Variant:p.D140Splc
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CD33

NM_001772.4:p.D140Splc

Associated Papers

Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.

Aflaki E et al.

Science Translational Medicine, 2014

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

X-Linked Chronic Granulomatous Disease: First Report of Mutations in Patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 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."