Concepedia

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Frank Rauch, Somayyeh Fahiminiya, Jacek Majewski, Jian Carrot‐Zhang, Sergei P. Boudko, Francis H. Glorieux, John S. Mort, Hans‐Peter Bächinger, Pierre Moffatt

The American Journal of Human Genetics · 2015 · 106 citations · 21 references

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Osteogenesis imperfecta

Frank Rauch, Francis H. Glorieux · The Lancet · 2004 · 1.2K citations

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

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Genotype, haplotype and copy-number variation in worldwide human populations

Mattias Jakobsson, Sonja W. Scholz, Paul Scheet et al. · Nature · 2008 · 911 citations · Full text

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