Varaico: Literature-Extracted Genetic Variants

Gene:RPS26
Variant:p.M1T
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RPS26

NM_001029.5:p.M1T

Associated Papers

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B et al.

Genes, 2022

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.

van Dooijeweert B et al.

British Journal of Haematology, 2021

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 2014

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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."