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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A

Document Type

Article

Author

Upadhyai, P.; Radhakrishnan, P.; Guleria, V.S.; Kausthubham, N.; Nayak, S.S.; Girisha, K.M.; Superti-Furga, A.

Source

In: Human Mutation. (Human Mutation, August 2021, 42(8):1005-1014)

Subject

Language

English

ISSN

10981004
10597794

Online Access

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

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