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May 30, 2024
Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM)
The study illuminates the impact of the RP-associated Asp25Glu variant on CLCC1, showcasing a notable shift in its interaction profile.
Mar 20, 2022
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago
These results provide insight into the origin of the CLCC1 mutation in the Pakistan population, estimated to have occurred 2000-5000 yrs ago
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