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JMP | Free Full-Text | An Independent Assessment of a Commercial Clinical Interpretation Software Indicates That Software Can Mitigate Variation in Human Assessment
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Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies | Science
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IJMS | Free Full-Text | Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy
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IJMS | Free Full-Text | Cardiomyocyte Dysfunction in Inherited Cardiomyopathies
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Cardiogenetics | Free Full-Text | Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)
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Diagnostics | Free Full-Text | Five Years’ Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination
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Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease - Heng - 2022 - Journal of Neurochemistry - Wiley Online Library
