Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.Q333*
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XIAP

NM_001167.4:p.Q333*

Associated Papers

Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.

Engelmann C et al.

Cell Death & Disease, 2022

36270981 (PubMed )
Supplement: 41419_2022_5337_MOESM9_ESM.xlsx › Sheet1

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Prokop JW et al.

Journal of Molecular Modeling, 2017

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.

Damgaard RB et al.

Embo Molecular Medicine, 2013

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.

Marsh RA et al.

Blood, 2010

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

Aguilar-Martinez P et al.

Haematologica, 2010

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.

Zhao M et al.

Haematologica, 2010

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.

Marsh RA et al.

Cytometry. Part B, Clinical Cytometry, 2009

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.

Marsh RA et al.

Clinical Immunology (orlando, Fla.), 2009

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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."