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1 records shown · first 60Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.
PMID 35791502 | DOI 10.1080/09537104.2022.2091773 · Platelets · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | P106L | “The P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs.” | 0.82 | literature_variant_regex_v2 |
| gene | MPL | “Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “The P106L mutation in the human myeloproliferative leukemia virus oncogene (MPL) was shown to be associated with hereditary thrombocythemia in Arabs.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Genetic databases at two tertiary hospitals in Saudi Arabia were searched to identify patients with the MPL P106L mutation. In total, 115 patients were included.” | 0.95 | saudi_context_rules_v1 |