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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CFC1B
Variant:
p.R189C
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CFC1B
NM_001079530.2:p.R189C
hg38:chr2:130527788 C>T
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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