Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.D250N
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RPS6KA3

NM_004586.3:p.D250N

Associated Papers

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Maity S et al.

Frontiers in Genetics, 2025

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Schulze K et al.

Nature Genetics, 2015

25822088 (PubMed )
Supplement: NIHMS62359-supplement-Table3.xlsx › SuppTable_3a_242_exomes
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