Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.Y54*
Back to variants list

SH2D1A

NM_002351.5:p.Y54*

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

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

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.

Meazza R et al.

The Journal of Allergy and Clinical Immunology, 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."