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Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy
IMPORTANCE: As genetic and genomic screening is becoming more widely accessed, correctly distinguishing pathogenic from nonpathogenic variants is of increasing relevance. OBJECTIVE: To reevaluate a previously reported family in whom the p.(Pro50Leu) variant in the gene GUCA1A was associated with a d...
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| Publicado no: | JAMA Ophthalmol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Medical Association
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6902164/ https://ncbi.nlm.nih.gov/pubmed/31804667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2019.4959 |
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