Concepedia

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Michael Zech, Daniel D. Lam, Ludmila Francescatto, Barbara Schormair, Aaro V. Salminen, Angela Jochim, Thomas Wieland, Peter Lichtner, Annette Peters, Christian Gieger,

The American Journal of Human Genetics · 2015 · 86 citations · 30 references

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30

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Endostatin: An Endogenous Inhibitor of Angiogenesis and Tumor Growth

Michael S. O’Reilly, Thomas Boehm, Yuen Shing et al. · Cell · 1997 · 4.5K citations · Full text

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Genetic Heterogeneity in Human Disease

Jon McClellan, Mary‐Claire King · Cell · 2010 · 1K citations · Full text

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Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

Andréa L. Sertié · Human Molecular Genetics · 2000 · 286 citations · Full text

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PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

Barbara Schormair, David Kemlink, Darina Roeske et al. · Nature Genetics · 2008 · 284 citations · Full text

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