Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.L46Splc
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SH2D1A

NM_002351.5:p.L46Splc

Associated Papers

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

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

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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."