Hiding in plain sight: a partial deletion of exon 7 undetectable by MLPA is a Nepali founder variant.

J Med Genet

Oxford NIHR Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK

Published: January 2025


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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877027PMC
http://dx.doi.org/10.1136/jmg-2024-110422DOI Listing

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