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A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project

Document Type

Journal

Author

Seaby, Eleanor G.; Leggatt, Gary; Cheng, Guo; Thomas, N. Simon; Ashton, James J.; Stafford, Imogen; Baralle, Diana; Rehm, Heidi L.; Donnell-Luria, Anne O. '; Ennis, Sarah; Genom England Res Consortium

Source

GENETICS IN MEDICINE; APR 2024, 26 4, p101073 9p.

Subject

Language

English

ISSN

15300366

Online Access

Full Text (ScienceDirect) Web of Science JCR 저널정보 Scopus Find it@PNU

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