Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.E67_T68Splc
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SH2D1A

NM_002351.5:p.E67_T68Splc

Associated Papers

Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1.

Hoshino A et al.

The Journal of Allergy and Clinical Immunology, 2019

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.

Tóth B et al.

Journal of Clinical Immunology, 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

SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.

Yang X et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2012

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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."