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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 60Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
PMID 30183354 | DOI 10.1089/gtmb.2018.0058 · Genetic testing and molecular biomarkers · 2018 · 18 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Pro106Leu | “Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.” | 0.95 | hgvs_regex_v1 |
| gene | CHD7 | “One patient who had both SCD and CHARGE association was heterozygous for pathogenic mutation p.Arg987Ter in the CHD7 gene.” | 0.98 | hgnc_dict_v1 |
| gene | VKORC1 | “One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.” | 0.98 | hgnc_dict_v1 |
| gene | RPL5 | “Two patients with steady hemoglobin levels of 7.5 and 7.1 g/dL were carriers of the pathogenic mutation p.Gly140Ser in the RPL5 gene that is associated with Diamond-Blackfan anemia.” | 0.98 | hgnc_dict_v1 |