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Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
Mutations in POC1B are a rare cause of inherited retinal degeneration. In this study, we present a thorough phenotypic and genotypic characterization of three individuals harboring putatively pathogenic variants in the POC1B gene. All patients displayed a similar, slowly progressive retinopathy (con...
Gorde:
| Argitaratua izan da: | Int J Mol Sci |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2021
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8160832/ https://ncbi.nlm.nih.gov/pubmed/34065499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22105396 |
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