Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.G39_L46delFs
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SH2D1A

NM_002351.5:p.G39_L46delFs

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

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

Clinical and molecular characteristics of Chinese patients with X-linked lymphoproliferative syndrome type 1.

An YF et al.

Pediatric Blood & Cancer, 2014

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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."