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The Journal of biological chemistry·1999

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Epithelial cell cultures from amniotic fluid for prenatal diagnosis

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Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.

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