Varaico: Literature-Extracted Genetic Variants

Gene:RHOH
Variant:p.Y38*
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RHOH

NM_004310.5:p.Y38*

Associated Papers

A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections.

Zhou J et al.

Journal of Clinical Immunology, 2024

Small Rho GTPases and their associated RhoGEFs mutations promote immunological defects in primary immunodeficiencies.

Hashim IF et al.

The International Journal of Biochemistry & Cell Biology, 2021

The Role of RhoH in TCR Signalling and Its Involvement in Diseases.

Ahmad Mokhtar AM et al.

Cells, 2021

Hematopoietic-specific Rho GTPases Rac2 and RhoH and human blood disorders.

Troeger A et al.

Experimental Cell Research, 2013

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.

Crequer A et al.

The Journal of Clinical Investigation, 2012

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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."