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Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome (2025)

First Author: Walker S

Attributed to: Identifying New Disease Genes & Mechanisms for Musculoskeletal Disorders in 100K Genomes Project using Bioinformatics, Phenotyping & Machine Learning funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1101/2025.02.18.25321172

Publication URI: http://dx.doi.org/10.1101/2025.02.18.25321172

Type: Preprint