Varaico: Literature-Extracted Genetic Variants

Gene:RPL3
Variant:p.H11R
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RPL3

NM_000967.4:p.H11R

Associated Papers

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Gazda HT et al.

Human Mutation, 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."