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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. (2023)

First Author: Pagnamenta AT

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/10.1136/jmg-2022-108753

PubMed Identifier: 36411030

Publication URI: http://europepmc.org/abstract/MED/36411030

Type: Journal Article/Review

Volume: 60

Parent Publication: Journal of medical genetics

Issue: 5

ISSN: 0022-2593