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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
LDLRAP1
Variant:
p.M124L
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LDLRAP1
NM_015627.3:p.M124L
hg38:chr1:25557178 A>T
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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