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Additional file 2: Table S2. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

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posted on 2015-09-21, 05:00 authored by Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones
Likely Pathogenic Variants (Class 4) (XLSX 20 kb)

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    BMC Medical Genetics

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    phenotype-genotype variabilityAdditionalXLSX 20  kbApplication2.multi-gene panel testingPathogenic Variantsneuropathydiagnosis

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