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Article
“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies
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Article
Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus
Aquaporin-2 (AQP2) missense mutants in recessive nephrogenic diabetes insipidus (NDI) are all retained in the endoplasmic reticulum (ER), but some could function as water channels. No conclusions could be draw...