Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.N82fs
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SH2D1A

NM_002351.5:p.N82fs

Associated Papers

Successful Auxiliary Liver Transplant Followed by Hematopoietic Stem Cell Transplantation in X-Linked Lymphoproliferative Disease Type 1.

Chartier ME et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2021

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet2

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

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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."