Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.K114_G115Splc
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RBM8A

NM_005105.5:p.K114_G115Splc

Associated Papers

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.

Strauss G et al.

Hamostaseologie, 2023

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.

Monteiro C et al.

International Journal of Molecular Sciences, 2022

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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."