TY  - JOUR

T1  - The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease

JO  - Human Mutation

UR  - https://eprints.whiterose.ac.uk/id/eprint/202197

PY  - 2023/07/28

AU  - Durkie M

AU  - Watson CM

AU  - Winship P

AU  - Hogg A-C

AU  - Nyanhete R

AU  - Cooley S

AU  - Valluru MK

AU  - Shaw-Smith C

AU  - Bingham C

AU  - Gilchrist M

AU  - Kenny J et al

ED  - Oetting W

DO  - DOI: 10.1155/2023/5597005

PB  - Hindawi Limited

VL  - 2023

Y2  - 2024/12/22

ER  -