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The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease

Document Type

Article

Author

Durkie, M.; Winship, P.; Hogg, A.-C.; Nyanhete, R.; Watson, C.M.; Cooley, S.; Valluru, M.K.; Ong, A.C.M.; Shaw-Smith, C.; Bingham, C.; Gilchrist, M.; Kenny, J.; Consortium, G.E.R.

Source

In: Human Mutation. (Human Mutation, 2023, 2023)

Subject

Language

English

ISSN

10981004
10597794

Online Access

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

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