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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SORT1
Variant:
p.S147Splc
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SORT1
NM_002959.7:p.S147Splc
hg38:chr1:109367343 A>T
Frequencies & domains
Associated Papers
Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.
Tveten K et al.
Atherosclerosis,
2012
23102784 (PubMed
)
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