Concepedia

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha S. Zaki, Kelly Schoch, Sabine Rudnik‐Schöneborn, Andrew Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan,

The EMBO Journal · 2018 · 127 citations · 38 references

DOIFull text

Open access

Concepts

References

38

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

Steffan N. Ho, Henry D. Hunt, Robert M. Horton et al. · Gene · 1989 · 7.5K citations

, , +10

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 general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

, , +15

Estimation of nuclear population from microtome sections

M. Abercrombie · The Anatomical Record · 1946 · 4.4K citations

, , +4