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Article

A phenotype driven integrative framework uncovers molecular mechanisms of a rare hereditary thrombophilia.

PloS one - 1 Jan 2023

Malod-Dognin Noël, Ceddia Gaia, Gvozdenov Maja, Tomić Branko, Dunjić Manevski Sofija, Djordjević Valentina, Pržulj Nataša

Abstract excerpt

Antithrombin resistance is a rare subtype of hereditary thrombophilia caused by prothrombin gene variants, leading to thrombotic disorders. Recently, the Prothrombin Belgrade variant has been reported as a specific variant that leads to antithrombin resistance in two Serbian families with thrombosis. However, due to clinical data scarcity and the inapplicability of traditional genome-wide association studies...

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Identifiers

PMID: 37098010
DOI: 10.1371/journal.pone.0284084
PMCID: PMC10128975

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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