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Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.
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- Genes, 2019, v. 10, n. 5, p. 363, doi. 10.3390/genes10050363
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- Article
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 539, doi. 10.1002/humu.23713
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- Article