Varaico: Literature-Extracted Genetic Variants

Gene:STK4
Variant:p.R148*
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STK4

NM_006282.5:p.R148*

Associated Papers

Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature review.

Uygun V et al.

Pediatric Transplantation, 2023

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

Sharafian S et al.

Journal of Clinical Immunology, 2019

Noncanonical Hippo Signalling in the Regulation of Leukocyte Function.

Kurz ARM et al.

Trends in Immunology, 2018

EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.

Schipp C et al.

Frontiers in Immunology, 2018

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS et al.

Journal of Clinical Immunology, 2016

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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."