GDMCC: Identifying a Pathogenic Non-Coding Variant in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
Nov 26, 2024 ·
1m 49s
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Description
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journal of Medical Genetics on October 4, 2024,...
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New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journal of Medical Genetics on October 4, 2024, titled "Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63880
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
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Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63880
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
Information
| Author | RDCRN |
| Organization | RDCRN |
| Website | - |
| Tags |
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