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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease kennedy disease
Comorbidity C0035334|retinitis pigmentosa
Sentences 2
PubMedID- 23822596 Purpose: to describe the phenotype of members of the first czech retinitis pigmentosa family with an identified molecular genetic cause (c.2426_2427delag in rpgr), followed for more than 13 years.
PubMedID- 20064120 Molecular genetic cause of x-linked retinitis pigmentosa in a czech family.

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