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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FOXC1
Variant:
p.P220H
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FOXC1
NM_001453.3:p.P220H
hg38:chr6:1611104 C>A
Frequencies & domains
Associated Papers
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation,
2009
19338053 (PubMed
)
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