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2 records shown · first 60Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
PMID 30180809 | PMCID PMC6123902 | DOI 10.1186/s12881-018-0672-z · BMC medical genetics · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.His1047Arg | “CASE PRESENTATION: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg.” | 0.95 | hgvs_regex_v1 |
| gene | PIK3CA | “Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “BACKGROUND: Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome.” | 0.95 | saudi_context_rules_v1 |
| variant | c.3140A>G | “Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.” | 0.95 | hgvs_regex_v1 |
Prevalence of PIK3CA mutations and the SNP rs17849079 in Arab breast cancer patients.
PMID 23982433 | PMCID PMC3926885 | DOI 10.4161/cbt.25945 · Cancer biology & therapy · 2013 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.His1047Arg | “The majority of the mutations, 17 out of 21 (81%), were in exon 20 (p.His1047Arg, p.His1047Lys, p.Thr1025Ala, p.Gly1049Arg, p.Asp1056Asn) while the remainder, 4 out of 21 (19%) were in exon 9 (p.Glu545Lys).” | 0.95 | hgvs_regex_v1 |
| gene | PIK3CA | “Prevalence of PIK3CA mutations and the SNP rs17849079 in Arab breast cancer patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Prevalence of PIK3CA mutations and the SNP rs17849079 in Arab breast cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.His1047Lys | “The majority of the mutations, 17 out of 21 (81%), were in exon 20 (p.His1047Arg, p.His1047Lys, p.Thr1025Ala, p.Gly1049Arg, p.Asp1056Asn) while the remainder, 4 out of 21 (19%) were in exon 9 (p.Glu545Lys).” | 0.95 | hgvs_regex_v1 |