Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS7
Variant:p.T1189N
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ADAMTS7

NM_014272.5:p.T1189N

Associated Papers

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.

Szczawinska-Poplonyk A et al.

Frontiers in Immunology, 2020

32231661 (PubMed )
Supplement: Data_Sheet_1.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."