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| Regression v0.574 | KLC4 | Zornitza Stark Marked gene: KLC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.574 | KLC4 | Zornitza Stark Gene: klc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.574 | KLC4 |
Zornitza Stark gene: KLC4 was added gene: KLC4 was added to Regression. Sources: Literature Mode of inheritance for gene: KLC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129 Review for gene: KLC4 was set to RED Added comment: Single family reported with three affected sibs, homozygous variant. Sources: Literature |
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