Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.H110Q
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BLOC1S6

NM_012388.4:p.H110Q

Associated Papers

Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy.

Gloude NJ et al.

Journal of Clinical Immunology, 2020

32447592 (PubMed )
Supplement: 10875_2020_789_MOESM1_ESM.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."