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Biological Magnetic Resonance Data BankA Repository for Data from NMR Spectroscopy on Proteins, Peptides, Nucleic Acids, and other Biomolecules |
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Homocarnosinosis
Homocarnosinosis is a very rare metabolic disorder where a deficiency of homocarnosinase causes a harmful buildup of homcarnosine. Symptoms include mental retardation, retinal pigmentation and spastic diplegia.
| Gene Name | Chromosome number |
|---|---|
| CNDP1 | 18 |