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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
LDLR
Variant:
p.G593S
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LDLR
NM_000527.5:p.G593S
hg38:chr19:11116930 G>A
Frequencies & domains
Associated Papers
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI et al.
Nature Genetics,
2011
22197931 (PubMed
)
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