Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms

Medicine & Life Sciences

• Genetic Databases 100%
• RNA Splice Sites 95%
• Whole Exome Sequencing 90%
• Whole Genome Sequencing 88%
• Inherited Peripheral Neuropathy 66%
• Undiagnosed Diseases 58%
• Paternal Inheritance 56%
• Tooth 54%
• Charcot-Marie-Tooth Disease 51%
• Inheritance Patterns 48%
• Maternal Inheritance 48%
• Phenotype 45%
• Reverse Transcriptase Polymerase Chain Reaction 38%
• Immunoglobulins 33%
• Atrophy 33%
• Carrier Proteins 32%
• Alleles 27%
• Genes 15%