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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RIIAD1
Variant:
p.E2*
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RIIAD1
NM_001144956.3:p.E2*
hg38:chr1:151721540 G>T
Frequencies & domains
Associated Papers
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis.
Timberlake AT et al.
Human Genome Variation,
2018
30038786 (PubMed
)
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