Concepedia

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

Gen Tamiya, Satoshi Makino, Makiko Hayashi, Akiko Abe, Chikahiko Numakura, Masao Ueki, Atsushi Tanaka, Chizuru Ito, Kiyotaka Toshimori, Nobuhiro Ogawa,

The American Journal of Human Genetics · 2014 · 81 citations · 20 references

DOIFull text

Open access

Concepts

References

20

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

, , +17

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

, , +15

A gene atlas of the mouse and human protein-encoding transcriptomes

Andrew I. Su, Tim Wiltshire, Serge Batalov et al. · Proceedings of the National Academy of Sciences · 2004 · 3.5K citations · Full text

, , +16

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 3K citations · Full text

, , +16

A conditional knockout resource for the genome-wide study of mouse gene function

William C. Skarnes, Barry P. Rosen, Anthony P. West et al. · Nature · 2011 · 1.8K citations

, , +16