Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.V124fs
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STX11

NM_003764.4:p.V124fs

Associated Papers

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

Ciraci S et al.

Journal of Pediatric Hematology/oncology, 2017

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B et al.

Genome Medicine, 2015

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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."