Concepedia

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

Yinghong He, Kristin Maier, Juna Leppert, Agnes Schwieger‐Briel, Lisa Weibel, Martin Theiler, Dimitra Kiritsi, Hauke Busch, Melanie Boerries, Katariina Hannula‐Jouppi,

The American Journal of Human Genetics · 2016 · 88 citations · 37 references

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37

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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From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

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Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line.

Petra Boukamp, R T Petrussevska, Dirk Breitkreutz et al. · The Journal of Cell Biology · 1988 · 4.2K citations · Full text

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Oxidative Stress Sensor Keap1 Functions as an Adaptor for Cul3-Based E3 Ligase To Regulate Proteasomal Degradation of Nrf2

Akira Kobayashi, Moon-Il Kang, Hiromi Okawa et al. · Molecular and Cellular Biology · 2004 · 2.2K citations · Full text

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Sequence and structural analysis of BTB domain proteins

P.J. Stogios, Gregory S. Downs, Jimmy JS Jauhal et al. · Genome biology · 2005 · 697 citations · Full text

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