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The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

‘No causative variants found’: an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing

Lookup NU author(s): Dr Anna BasuORCiD, Dr Laura Yates

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Publication metadata

Author(s): Wells P, Basu AP, Yates LM

Publication type: Article

Publication status: Published

Journal: BMJ Case Reports

Year: 2025

Volume: 18

Issue: 1

Online publication date: 21/01/2025

Acceptance date: 30/12/2024

Date deposited: 22/01/2025

ISSN (electronic): 1757-790X

Publisher: BMJ Group

URL: https://doi.org/10.1136/bcr-2024-263723

DOI: 10.1136/bcr-2024-263723

ePrints DOI: 10.57711/ddrq-d920


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