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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
OPHN1
Variant:
p.K128_E129Splc
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OPHN1
NM_002547.3:p.K128_E129Splc
hg38:chrX:68274736 A>G
Frequencies & domains
Associated Papers
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH et al.
Human Mutation,
2019
31131953 (PubMed
)
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