Associated Papers
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Sun WB et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.
Matsunoshita N et al.
Journal of Human Genetics, 2018
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