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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
Priyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S. Guleria, Neethukrishna Kausthubham, Shalini S. Nayak, Andrea Superti-Furga, Katta M. Girisha
Research output: Contribution to journal › Article › peer-review
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(Scopus)