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1 records shown · first 60Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.
PMID 31686731 | PMCID PMC6801243 | DOI 10.1007/s12291-018-0763-9 · Indian journal of clinical biochemistry : IJCB · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | I474V | “Our data demonstrated that the I474V and E670G PCSK9 variants are very frequent in the Hail region of Saudi Arabia and are found at even higher frequency among diabetics.” | 0.82 | literature_variant_regex_v2 |
| gene | PCSK9 | “Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Non-synonymous single-nucleotide polymorphism (SNPs) in the gene for proprotein convertase subtilisin/kexin type 9 (PCSK9) can influence cholesterol and glucose metabolism, leading to increased risk of cardiovascular disease and diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Hail | “To determine the frequency of four common PCSK9 SNPs, L10Ins, A56V, I474V, and E670G, in a population sample (n = 98) of the Hail region of Kingdom of Saudi Arabia. Out of 98 participants. Our data demonstrated that the I474V and E670G PCSK9 variants are very frequent in the Hail region of Saudi Arabia and are found at even higher frequency among diabetics.” | 0.95 | saudi_context_rules_v1 |