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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CFC1
Variant:
p.G174del1
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CFC1
NM_032545.4:p.G174del1
hg38:chr2:130593025 GCGC>G
Frequencies & domains
Associated Papers
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Bamford RN et al.
Nature Genetics,
2000
11062482 (PubMed
)
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