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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ERN2
Variant:
p.L467R
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ERN2
NM_033266.4:p.L467R
hg38:chr16:23700664 A>C
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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