Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.L98P
Back to variants list

SH2D1A

NM_002351.5:p.L98P

Associated Papers

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.

Jin YY et al.

Human Immunology, 2016

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."