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References from New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software. Local targets link to admitted publications; unresolved targets remain external evidence.
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10.1016/0092-8674(91)90613-4 · External reference
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10.1038/ng0692-171 · External reference
Charcot-Marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing
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Hereditary neuropathies: an update. [Review]
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10.1007/s10048-010-0247-4 · External reference
Identification of novel pathogenic copy number variations in Charcot-Marie-tooth disease
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Extended Phenotypic Spectrum of KIF5A Mutations
10.1212/wnl.0000000000000691 · 2014 · External reference
10.1007/s11910-996-0011-1
10.1007/s11910-996-0011-1 · External reference
Unresolved reference
External reference
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
10.1002/ana.24744 · 2016 · External reference
10.1016/j.neuron.2018.02.027
10.1016/j.neuron.2018.02.027 · External reference
10.1093/brain/awx370
10.1093/brain/awx370 · External reference
10.1093/brain/awz317
10.1093/brain/awz317 · External reference
CovCopCan: an efficient tool to detect copy number variation from amplicon sequencing data in inherited diseases and cancer
10.1371/journal.pcbi.1007503 · 2020 · External reference
10.1016/j.csbj.2020.07.021
10.1016/j.csbj.2020.07.021 · External reference
Unresolved reference
2016 · External reference
‘COV’COP’ Allows to Detect CNVs Responsible for Inherited Diseases among Amplicons Sequencing Data
2017 · External reference
A molecular approach to dominance in hypophosphatasia
10.1007/s004390100546 · 2001 · External reference
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
10.1007/s00439-008-0480-1 · 2008 · External reference
SPG10 is a rare cause of spastic paraplegia in European families
10.1136/jnnp.2007.137596 · 2008 · External reference
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10.1038/ejhg.2016.42 · External reference
10.1002/acn3.50797
10.1002/acn3.50797 · External reference
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
10.1038/ejhg.2015.200 · 2016 · External reference
10.1038/gim.2015.30
10.1038/gim.2015.30 · External reference
Charcot-Marie-Tooth disease: Lessons in genetic mechanisms Review
10.1007/bf03401724 · 1998 · External reference
