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The genetic landscape of crystallins in congenital cataract

26 Nov 2020

Abstract excerpt

BACKGROUND: The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystallins are responsible for nearly 50% of all non-syndromic inherited congenital cataracts, as well as causing cataract associated with other diseases, including...

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PMID: 33243271
DOI: 10.1186/s13023-020-01613-3

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