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1 records shown · first 60Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.
PMID 30681615 | PMCID PMC6358331 | DOI 10.1097/MD.0000000000014247 · Medicine · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs151009667 | “Next-generation and exome sequencing studies have primarily involved genome-wide association analyses, and meta-analyses and next-generation studies examined a few single-nucleotide polymorphisms (rs151009667 and Val2095Glu) in the ApoB gene.” | 0.90 | hgvs_regex_v1 |
| gene | APOB | “Screening of common genetic variants in the APOB gene related to familial hypercholesterolemia in a Saudi population: A case-control study.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.” | 0.98 | hgnc_dict_v1 |