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Description
Both homozygous and heterozygous mutations have been reported, with the homozygous phenotype being more severe
Generalized edema of moderate degree is expected in the many metabolic and toxic conditions that are characterized by disturbances of cellular osmoregulation, in particular, disturbances that interfere with intracellular and extracellular concentrations of sodium and potassium
Qian et al., 2021)
He X, Zhu Y, Wang M, Jing G, Zhu R, Wang S
doi: 10.1080/1028415X.2023.2197709 185
Researchers saw results in weeks, not months
