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Article

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort.

British journal of haematology - 1 Aug 2026

Giannella Alessandra, Vianello Fabrizio, Zoletto Simone, Magrini Arianna, Gianesello Ilaria, Binotto Gianni, Danesin Nicolo', Ceccato Jessica, Gualtiero Giulia, Piazza Maria, Carraro Samuela, Carabotta Valeria, Cinetto Francesco, Cellini Alessandro, Carraro Marco, Gurrieri Carmela, Pavan Laura, Piazza Francesco, Visentin Andrea, Ageno Walter, Trentin Livio, Ceolotto Giulio

Abstract excerpt

Targeted next-generation sequencing combined with a structured interpretative framework integrating gene-disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying this condition.

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Identifiers

PMID: 42285891
DOI: 10.1111/bjh.70597
PMCID: PMC13461990

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