Sequence Inversion

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor

Journal of Medical Genetics May 2023, 60 (5) 505-510; DOI: 10.1136/jmg-2022-108753

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Sequence Inversion