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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HSD17B6
Variant:
p.E269V
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HSD17B6
NM_003725.4:p.E269V
hg38:chr12:56787194 A>T
Frequencies & domains
Associated Papers
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.
Olsen RK et al.
Prenatal Diagnosis,
2005
15662686 (PubMed
)
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