Work

Complex structural variation and nonsense variant in trans cause VPS50-related disorder

Year: 2024

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-109983

Authors: Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche

Institutions: University Medical Center Hamburg-Eppendorf, Klinikum Itzehoe, Universitätsklinikum Aachen, RWTH Aachen University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Deutsche Forschungsgemeinschaft

Award: G5694659347

OpenAlex ID: W4399668598

FWCI: 1.226

Cites: 17

Cited by: 5

Related to: 10