Concepedia

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Zhimiao Lin, Quan Chen, Lei Shi, Ming-Yang Lee, Kathrin Giehl, Zhanli Tang, Huijun Wang, Jie Zhang, Jinghua Yin, Lingshen Wu,

The American Journal of Human Genetics · 2012 · 76 citations · 30 references

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30

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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Mouse <i>Gli1</i> mutants are viable but have defects in SHH signaling in combination with a <i>Gli2</i> mutation

H. L. Park, Kenneth A. Platt, Michael P. Matise et al. · Development · 2000 · 722 citations

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Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

Yasuteru Muragaki, Stefan Mundlos, Joseph Upton et al. · Science · 1996 · 580 citations

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Mutation of HOXA13 in hand-foot-genital syndrome

Douglas P. Mortlock, Jeffrey W. Innis · Nature Genetics · 1997 · 501 citations

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Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1

Mats E. Nilsson · Proceedings of the National Academy of Sciences · 2000 · 380 citations

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