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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MID1
Variant:
p.I273fs
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MID1
NM_000381.4:p.I273fs
hg38:chrX:10495629 A>AN
Frequencies & domains
Associated Papers
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
Ferrentino R et al.
Human Mutation,
2007
17221865 (PubMed
)
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