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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
IFT122
Variant:
p.D9Y
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IFT122
NM_052989.3:p.D9Y
hg38:chr3:129440355 G>T
Frequencies & domains
Associated Papers
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis,
2018
29096039 (PubMed
)
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