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1 records shown · first 60Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.
PMID 37469559 | PMCID PMC10353052 | DOI 10.3389/fphys.2023.1204018 · Frontiers in physiology · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | R496W | “Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.” | 0.82 | literature_variant_regex_v2 |
| gene | PCSK9 | “Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “In addition, this variant was predicted to negatively influence its ligand-binding ability with LDLR and Alirocumab antibody molecules.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.” | 0.98 | phenotype_alias_lexicon_v2 |