Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.Y152C
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TIMP3

NM_000362.5:p.Y152C

Associated Papers

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Vergaro A et al.

International Journal of Molecular Sciences, 2024

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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."