Concepedia

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Rowida Almomani, Judith M.A. Verhagen, Johanna C. Herkert, Erwin Brosens, Karin Y. van Spaendonck‐Zwarts, Angeliki Asimaki, Paul A. van der Zwaag, Ingrid M.E. Frohn-Mulder, Aida M. Bertoli‐Avella, Ludolf G. Boven,

Journal of the American College of Cardiology · 2016 · 103 citations · 22 references

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22

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

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Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases

Perry Elliott, B. Andersson, Eloisa Arbustini et al. · European Heart Journal · 2007 · 3K citations · Full text

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Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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Incidence, Causes, and Outcomes of Dilated Cardiomyopathy in Children

Jeffrey A. Towbin, April M. Lowe, Steven D. Colan et al. · JAMA · 2006 · 1K citations

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