📣 Help Shape the Future of UKRI's Gateway to Research (GtR)

We're improving UKRI's Gateway to Research and are seeking your input! If you would be interested in being interviewed about the improvements we're making and to have your say about how we can make GtR more user-friendly, impactful, and effective for the Research and Innovation community, please email gateway@ukri.org.

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia. (2025)

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/10.1111/cge.14709

PubMed Identifier: 39894570

Publication URI: http://europepmc.org/abstract/MED/39894570

Type: Journal Article/Review

Parent Publication: Clinical genetics

ISSN: 0009-9163