Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
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Schlingmann KP, et al. Among authors: konrad m.
Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.
Am J Hum Genet. 2018.
PMID: 30388404
Free PMC article.