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| Hereditary neuropathy or pain disorder v0.1 | NEFL |
Ellen McDonagh gene: NEFL was added gene: NEFL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEFL were set to 10841809; 23618875 Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot Marie Tooth disease, type 1F, 607734; Charcot Marie Tooth disease, type 2E, 607684 |
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