Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
Publications
1 records shown · first 60Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
PMID 30270081 | DOI 10.1016/j.atherosclerosis.2018.06.878 · Atherosclerosis · 2018 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Y419D | “RESULTS: We recognized a 45-year-old Saudi female FH patient with double variants in the LDLR [c.1255 T > G, p.(Y419D)] and LDLRAP1 genes [c.604_605delTCinsA, p.(S202Tfs*2)].” | 0.95 | hgvs_regex_v1 |
| gene | LDLR | “Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |
| gene | LDLRAP1 | “Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.” | 0.98 | phenotype_alias_lexicon_v2 |