Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.I526V
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STXBP2

NM_006949.4:p.I526V

Associated Papers

Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.

Kadi Ozan Z et al.

Journal of Pediatric Hematology/oncology, 2024

HLH Syndrome in a Community Hospital: The Challenge of an Early Diagnosis.

Wagner Y et al.

Pediatric Health, Medicine and Therapeutics, 2024

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

Song Y et al.

Bmc Medical Genetics, 2020

Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency.

Mat Ripen A et al.

Sage Open Medicine, 2020

Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH.

Zhou S et al.

Bmc Medical Genetics, 2017

Clinical characteristics and genetic analysis of childhood acute lymphoblastic leukemia with hemophagocytic lymphohistiocytosis: a Japanese retrospective study by the Kyushu-Yamaguchi Children's Cancer Study Group.

Moritake H et al.

International Journal of Hematology, 2014

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V et al.

Journal of Medical Genetics, 2010

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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."