Work

A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder

Year: 2024

Type: article

Study design: Case Report

Source: Neuropediatrics

DOI: 10.1055/s-0044-1791910

Authors: L. Hecher, E. Gorski-Alberts, M. Begemann, J. Herwig, E. Lausberg, G. Hillebrand, A. Volk, I. Kurth, F. Kraft, K. Kutsche

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

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

OpenAlex ID: W4403328879

FWCI:

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