Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.A117Splc
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CAT

NM_001752.4:p.A117Splc

Associated Papers

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

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."