Associated Papers
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR et al.
Scientific Reports, 2021
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