Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.V45M
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SH2D1A

NM_002351.5:p.V45M

Associated Papers

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease.

Marsh RA et al.

Annals of the New York Academy of Sciences, 2011

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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."