KHK
NM_006488.3:p.V49I
Wingo AP et al.
Nature Genetics, 2025
Chen H et al.
European Journal of Endocrinology, 2024
Johnston JA et al.
Plos One, 2021
Tang X et al.
Nucleic Acids Research, 2014
Bonthron DT et al.
Human Molecular Genetics, 1994