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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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1 records shown · first 60Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
PMID 26968956 | DOI 10.1016/j.cancergen.2016.02.003 · Cancer genetics · 2016 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg2336His | “Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation.” | 0.95 | hgvs_regex_v1 |
| gene | BRIP1 | “Four patients with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) BRIP1/FANCJ mutation.” | 0.98 | hgnc_dict_v1 |
| gene | FANCC | “Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation.” | 0.98 | hgnc_dict_v1 |
| gene | FANCG | “One individual with SAA and acute myeloid leukemia had c.637_643del (p.Tyr213Lysfs*6) FANCG mutation.” | 0.98 | hgnc_dict_v1 |