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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HIVEP1
Variant:
p.D397Y
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HIVEP1
NM_002114.4:p.D397Y
hg38:chr6:12120984 G>T
Frequencies & domains
Associated Papers
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Steinfeld H et al.
Neurogenetics,
2016
27003583 (PubMed
)
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