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Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project

Dingge Ying; Jamie Sui Lam Kwok; Annie Tsz Wai Chu; Wei Ma; Helen Ying Fung Tam; Dicky Or; Shirley Pik Ying Hue; Qing Li; Christopher Kai Shun Leung; Brian Hon Yin Chung
Human Genetics · Vol. 144, Issue 5 · pp. 515-528 · 2025
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2025-05-01
Publication Year2025
Volume144
Issue5
Pages515-528
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-025-02737-x

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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