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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EVC
Variant:
p.M234_M235Splc
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EVC
NM_153717.3:p.M234_M235Splc
hg38:chr4:5741715 G>A
Frequencies & domains
Associated Papers
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Ulucan H et al.
Bmc Medical Genetics,
2008
18947413 (PubMed
)
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