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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RPS6KA3
Variant:
p.K86delFs
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RPS6KA3
NM_004586.3:p.K86delFs
hg38:chrX:20204084 AT>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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