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Article

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding.

Journal of thrombosis and haemostasis : JTH - 1 Jan 2026

Díaz-Ajenjo Lorena, Marín-Quílez Ana, Lama-Villanueva Ana, García-Jaén Pablo, Rey-Bua Beatriz, Hernández-Rivas Jesús María, Morgan Neil V, González-Porras José Ramón, Benito Rocío, Rivera José, Bastida José María

Abstract excerpt

BACKGROUND: Mild-to-moderate bleeding disorders are underdiagnosed, with many individuals classified as having no clear cause for their bleeding. Accurate diagnosis remains challenging and requires comprehensive clinical assessment, detailed laboratory testing, and advanced genetic testing. OBJECTIVES: This study aimed to elucidate the relevance of an integrated approach for diagnosing patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41138802
DOI: 10.1016/j.jtha.2025.09.036

Genes

VPS33B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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