Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis.

Haematologica · 2023 · PMC10230427 · PMID 36700397

Europe PMC DOI

hedged sentence

—

closest p

—

boldest claim

The sentences

highly significantno p-value reported

It is interesting to note the complexity of genotype/phenotype correlations in this disease 17 with the example of family 17 who carries the p.Ala530Ser variant (a substitution never described before this study) and do not present a tumor history despite a highly significant gain of function.

also in 132,142 other papers

Quoted from the open-access full text in Europe PMC under the licence the publisher applied. The sentence is reproduced exactly as published; the emphasis is ours.