Hiding in plain sight: a partial deletion of exon 7 undetectable by MLPA is a Nepali founder variant.
作者信息
Clowes Virginia, Taylor Jenny C, Pagnamenta Alistair T
机构信息
North West Thames Regional Genetics Service, Northwick Park Hospital, London, UK.
Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, UK.
出版信息
J Med Genet. 2025 Jan 27;62(2):54-56. doi: 10.1136/jmg-2024-110422.
Abstract
摘要
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