Concepedia

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke, Theresa Heinrich, Sebastian Gießelmann, Jonathan Baets, Matthias Ebbinghaus, R. Oliver Goral, Tommy Stödberg, J. Christopher Hennings,

Nature Genetics · 2013 · 304 citations · 38 references

DOI

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References

38

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

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A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

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An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

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The crystal structure of a voltage-gated sodium channel

Jian Payandeh, Todd Scheuer, Ning Zheng et al. · Nature · 2011 · 1.4K citations

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