Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Q128*
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RPS19

NM_001022.4:p.Q128*

Associated Papers

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Aspesi A et al.

Human Mutation, 2018

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

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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."