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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
Int J Mol Sci. 2023 Jan 10;24(2):1350. doi: 10.3390/ijms24021350.
Int J Mol Sci. 2023.
PMID: 36674868
Free PMC article.
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N.
Kummer S, et al.
Int J Mol Sci. 2022 Jul 22;23(15):8097. doi: 10.3390/ijms23158097.
Int J Mol Sci. 2022.
PMID: 35897673
Free PMC article.
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