Varaico: Literature-Extracted Genetic Variants

Gene:RPS10
Variant:p.E100*
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RPS10

NM_001014.5:p.E100*

Associated Papers

A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.

Kamble P et al.

Molecular Genetics and Genomics : Mgg, 2025

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Gianferante DM et al.

Ejhaem, 2024

39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf
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