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carol : five/3/1996 Notice: OMIM is meant to be used mainly by medical professionals and other industry experts concerned with genetic Conditions, by genetics scientists, and by Highly developed students in science and medication. though the OMIM database is open up to the public, consumers seeking information regarding a private health-related or genetic ailment are urged to consult with a professional physician for diagnosis and for answers to non-public questions. OMIM® and on the web Mendelian Inheritance in Man® are registered trademarks from the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College.
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The mutation wasn't located in the NHLBI ESP or 1000 Genomes venture databases or in 400 ethnically matched controls. A cardiac-certain transgenic mouse product that overexpressed Dtna With all the N49S mutation was observed to possess a progressive cardiomyopathy characterised by dilated and thinner LV, cardiac systolic dysfunction, and age-relevant LV hypertrabeculation.
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