Varaico: Literature-Extracted Genetic Variants

Gene:RPS10
Variant:p.K24R
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RPS10

NM_001014.5:p.K24R

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

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.

Försti A et al.

International Journal of Cancer, 2025

39654522 (PubMed )
Supplement: IJC-156-1393-s002.xlsx › 3A._Missense

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Doherty L et al.

American Journal of Human Genetics, 2010

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