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| Hereditary neuropathy or pain disorder v0.1 | KLC2 |
Ellen McDonagh gene: KLC2 was added gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLC2 were set to 26385635 Phenotypes for gene: KLC2 were set to SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541 |
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