Varaico: Literature-Extracted Genetic Variants

Gene:RBM28
Variant:p.M1delins
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RBM28

NM_018077.3:p.M1delins

Associated Papers

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Bryant CJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

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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."