Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.

doi:10.1016/j.jtha.2023.11.011

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Article

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.

Journal of thrombosis and haemostasis : JTH - 1 Mar 2024

Ross Justyne E, Mohan Shruthi, Zhang Jing, Sullivan Mia J, Bury Loredana, Lee Kristy, Futchi Isabella, Frantz Annabelle, McDougal Dara, Perez Botero Juliana, Cattaneo Marco, Cooper Nichola, Downes Kate, Gresele Paolo, Keenan Catriona, Lee Alfred I, Megy Karyn, Morange Pierre-Emmanuel, Morgan Neil V, Schulze Harald, Zimowski Karen, Freson Kathleen, Lambert Michele P

Abstract excerpt

BACKGROUND: Inherited bleeding, thrombotic, and platelet disorders (BTPDs) are a heterogeneous set of diseases, many of which are very rare globally. Over the past 5 decades, the genetic basis of some of these disorders has been identified, and recently, high-throughput sequencing has become the primary means of identifying disease-causing genetic variants. OBJECTIVES: Knowledge of the clinical validity of a...

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PMID: 38016518
DOI: 10.1016/j.jtha.2023.11.011
PMCID: PMC10922649

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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