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A gene pathogenicity tool 'GenePy' identifies missed bialle..:
Seaby, Eleanor G
;
Leggatt, Gary
;
Cheng, Guo
...
https://eprints.soton.ac.uk/487423/1/1_s2.0_S1098360024000066_main.pdf. , 2024
Link:
https://eprints.soton.ac.uk/487423/
RT Journal T1 <Title>A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftsouthampton:oai:eprints.soton.ac.uk:487423&Exemplar=1&LAN=DE A1 Seaby, Eleanor G A1 Leggatt, Gary A1 Cheng, Guo A1 Thomas, N. Simon A1 Ashton, James J A1 Stafford, Imogen A1 Baralle, Diana A1 Rehm, Heidi L A1 O'Donnell-Luria, Anne A1 Ennis, Sarah YR 2024 JF https://eprints.soton.ac.uk/487423/1/1_s2.0_S1098360024000066_main.pdf LK http://dx.doi.org/https://eprints.soton.ac.uk/487423/ DO https://eprints.soton.ac.uk/487423/ SF ELIB - SuUB Bremen
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