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marked decrease » marked increase (Expand Search)
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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Published 2019“…<div><p>Background</p><p>RNA sequencing has been proposed as a means of increasing diagnostic rates in studies of undiagnosed rare inherited disease. …”
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A Rare Variant in Metallothionein 1E Increases the Risk for Type 2 Diabetes in a Chinese Population
Published 2023“…</p><p dir="ltr">Results: Our analysis revealed a rare variant of the metallothionein 1E (MT1E) gene, p.C36Y, in a three-generation family with diabetes. …”
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Table_1_A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.docx
Published 2020“…Ala397Asp) in KIF1A. Whole-cell recordings from primary cultured neurons revealed that the mutant KIF1A increases the excitatory synaptic transmission but not the intrinsic excitability of neurons, and phenotype testing in zebrafish showed that this rare mutation results in epileptic seizure-like activity. …”
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Image_1_A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.tif
Published 2020“…Ala397Asp) in KIF1A. Whole-cell recordings from primary cultured neurons revealed that the mutant KIF1A increases the excitatory synaptic transmission but not the intrinsic excitability of neurons, and phenotype testing in zebrafish showed that this rare mutation results in epileptic seizure-like activity. …”
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Altered expression of genes related to Ca<sup>2+</sup> cycling or myocardial contraction.
Published 2025Subjects: