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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
LDLR
Variant:
p.R778insFs
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LDLR
NM_000527.5:p.R778insFs
hg38:chr19:11128029 G>GC
Frequencies & domains
Associated Papers
Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
Salazar LA et al.
Human Mutation,
2002
11933210 (PubMed
)
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