Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Y76*
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SH2D1A

NM_002351.5:p.Y76*

Associated Papers

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Xu T et al.

European Journal of Pediatrics, 2020

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.

Chen X et al.

Clinical Genetics, 2018

Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.

Liu J et al.

Molecular Medicine Reports, 2015

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.

Overwater E et al.

European Journal of Pediatrics, 2014

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.

Meazza R et al.

The Journal of Allergy and Clinical Immunology, 2014

Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.

Nichols KE et al.

Immunological Reviews, 2005

A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses.

Sumegi J et al.

Leukemia & Lymphoma, 2002

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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."