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2 records shown · first 60Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.
PMID 35249492 | DOI 10.2174/1570161120666220304101606 · Current vascular pharmacology · 2022 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.D492N | “RESULTS: We identified the presence of a novel frameshift variant [c.335_336insCGAG, p.(F114Rfs*17)] and three known missense variants [c.622G>A, p.(E208K)], [c.1474G>A, p.(D492N)], [c.1429G>A, p.(D477N)] in the LDLR gene of four unrelated Saudi families with FH.” | 0.95 | hgvs_regex_v1 |
| gene | LDLR | “Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.” | 0.98 | hgnc_dict_v1 |
| gene | EGF | “In this study, all the detected variants were confined in the ligand-binding domain and epidermal growth factor (EGF)-precursor homology domain of the LDLR protein, which portrayed severe clinical phenotypes of FH.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.” | 0.98 | phenotype_alias_lexicon_v2 |
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
PMID 29172679 | DOI 10.1089/cmb.2017.0018 · Journal of computational biology : a journal of computational molecular cell biology · 2018 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.D492N | “Missense variants resulting in amino acid changes, c.1429G>A (p.D477N), c.1474G>A (p.D492N), c.1731G>T (p.W577C), and c.1783C>T (p.R595W) in LDLR gene, in addition to c.9835A>G (p.S3279G) in APOB, were shown to be deleterious by concordant analysis.” | 0.95 | hgvs_regex_v1 |
| gene | LDLR | “A total of 21 variants were detected with majority rate in LDLR (81%).” | 0.98 | hgnc_dict_v1 |
| gene | APOB | “Missense variants resulting in amino acid changes, c.1429G>A (p.D477N), c.1474G>A (p.D492N), c.1731G>T (p.W577C), and c.1783C>T (p.R595W) in LDLR gene, in addition to c.9835A>G (p.S3279G) in APOB, were shown to be deleterious by concordant analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.” | 0.98 | phenotype_alias_lexicon_v2 |