Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.D130N
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RPS19

NM_001022.4:p.D130N

Associated Papers

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Heeney MM et al.

Human Mutation, 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."