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Paper Details

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Genome Med
119
2013
Charcot-Marie-Tooth neuropathy, SH3TC2 variant, SH3TC2 variant alleles, SNV, captured targeted regions, genome, personal genome, pseudogenes, single nucleotide variants, transformed cell lines
Author NameAffiliation
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
Yaping YangBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Christian J BuhayBaylor College of Medicine
Christie L KovarBaylor College of Medicine
Alicia HawesBaylor College of Medicine
Alicia HawesBaylor College of Medicine
Jeffrey G ReidBaylor College of Medicine
Jeffrey G ReidBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
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