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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
WDR18
Variant:
p.E291K
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WDR18
NM_024100.4:p.E291K
hg38:chr19:991291 G>A
Frequencies & domains
Associated Papers
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M et al.
Human Mutation,
2025
40677927 (PubMed
)
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