Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.R129delFs
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RPS19

NM_001022.4:p.R129delFs

Associated Papers

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.

Li J et al.

International Journal of Laboratory Hematology, 2023

Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia.

Crazzolara R et al.

Haematologica, 2017

Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

Smetanina NS et al.

Pediatric Blood & Cancer, 2015

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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."