Genetic & Genomic MedicineGene ReportsPeer-reviewed
Discovery of a Novel Missense Mutation in the RIMS1 Gene Potentially Enhances the Severity of Retinitis Pigmentosa (RP) Caused by RP1 Mutation in Humans
José M. Lázaro-Guevara, Karen M. Garrido-Lopez, Laura Sofía Reyna Soberanis…·José Luis Téllez-Arreola
The paper identifies a novel RIMS1 missense mutation that interacts with RP1 mutations to enhance retinitis pigmentosa severity in a family cohort.
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