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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RPS6KA2
Variant:
p.R110*
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RPS6KA2
NM_021135.6:p.R110*
hg38:chr6:166510328 T>A
Frequencies & domains
Associated Papers
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J et al.
Human Mutation,
2001
11180593 (PubMed
)
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