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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ARVCF
Variant:
p.R315W
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ARVCF
NM_001670.3:p.R315W
hg38:chr22:19980196 G>A
Frequencies & domains
Associated Papers
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R et al.
Human Molecular Genetics,
2020
32196547 (PubMed
)
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