Varaico: Literature-Extracted Genetic Variants

Gene:RAP1B
Variant:p.G12E
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RAP1B

NM_001010942.3:p.G12E

Associated Papers

Non-Malignant Granulocyte and Monocyte Disorders: An Update.

Ahmad Hilmi SB et al.

British Journal of Biomedical Science, 2025

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.

Benavides-Nieto M et al.

The Journal of Clinical Investigation, 2024

Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.

Pardo LM et al.

Clinical Genetics, 2024

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Chang D et al.

Npj Genomic Medicine, 2021

34272401 (PubMed )
Supplement: 41525_2021_226_MOESM1_ESM.pdf
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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."