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APP 17.10.29 PRO proforma UKGTNUKGTN Testing Criteria Name of disease: Charcot Marie Tooth disease type 1; desalinating Name of gene:Pertain (PRO)Patient name:Date of birth:Patient postcode:NHS number:Name
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New mutation in periaxin refers to a recently discovered genetic variation in the periaxin gene.
Scientists, researchers, or medical professionals studying periaxin mutations are required to file new mutation reports.
To fill out a new mutation in periaxin report, detailed genetic information and relevant clinical data must be provided.
The purpose of reporting new mutations in periaxin is to contribute to the understanding of genetic diseases and inform potential treatment strategies.
Information such as the specific mutation, its prevalence, associated symptoms, and any relevant experimental findings should be reported.
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