Varaico: Literature-Extracted Genetic Variants

Gene:RHOA
Variant:p.R70S
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RHOA

NM_001664.4:p.R70S

Associated Papers

RHOA-associated disorder can be non-mosaic.

Nakato D et al.

European Journal of Medical Genetics, 2025

From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.

Durmusalioglu EA et al.

American Journal of Medical Genetics. Part A, 2025

De novo dedifferentiated SDH-deficient gastrointestinal stromal tumor with MDM2 amplification: case report and literature review.

Gong QX et al.

Frontiers in Oncology, 2023

A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.

Cai ZR et al.

Pediatric Dermatology, 2022

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS1.HybridClusters
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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."