Hiding in plain sight: a partial deletion of <i>BRCA1</i> exon 7 undetectable by MLPA is a Nepali founder variant
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Authors
- Jenny C. Taylor (ORCID: https://orcid.org/0000-0003-3602-5704)
- Alistair T. Pagnamenta (ORCID: https://orcid.org/0000-0001-7334-0602)
- Virginia Clowes
Institutions
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Northwick Park Hospital (GB)
- University of Oxford (GB)
- Oxford BioMedica (United Kingdom) (GB)
- Imperial College London (GB)
- Royal College of Paediatrics and Child Health (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-12-11
- DOI
- https://doi.org/10.1136/jmg-2024-110422
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- Medical Research Council