Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.A25S
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CST3

NM_000099.4:p.A25S

Associated Papers

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.

Butler JM et al.

Human Genetics, 2015

A dual Golgi- and mitochondria-localised Ala25Ser precursor cystatin C: an additional tool for characterising intracellular mis-localisation leading to increased AMD susceptibility.

Ratnayaka A et al.

Experimental Eye Research, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."