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September 9, 2024Genome MedicineOpen Access

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

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Authors

COCarolina Jaramillo OquendoUniversity of SouthamptonHWHtoo A. WaiUniversity of SouthamptonWRWil I RichSouthampton General Hospital

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Oquendo et al. (2024) studied this question.

synapsesocial.com/papers/68e58feab6db64358752b26chttps://doi.org/10.1186/s13073-024-01381-w
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