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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Eveline Boudin, Tjeerd R. de Jong, Timothy C. R. Prickett, Bruno Lapauw, Kaatje Toye, Viviane Van Hoof, Ilse Luyckx, Aline Verstraeten, H. S. A. Heymans, Eelco Dulfer,

The American Journal of Human Genetics · 2018 · 39 citations · 42 references

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42

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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Hundreds of variants clustered in genomic loci and biological pathways affect human height

Hana Lango Allen, Karol Estrada, Guillaume Lettre et al. · Nature · 2010 · 2.1K citations · Full text

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Brain natriuretic peptide as a novel cardiac hormone in humans. Evidence for an exquisite dual natriuretic peptide system, atrial natriuretic peptide and brain natriuretic peptide.

Masashi Mukoyama, Kazuwa Nakao, Kiminori Hosoda et al. · Journal of Clinical Investigation · 1991 · 1.4K citations · Full text

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Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.2K citations · Full text

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LOVD v.2.0: the next generation in gene variant databases

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1.1K citations · Full text

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