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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Detalles Bibliográficos
Autores principales: Mahroo, Omar A., Arno, Gavin, Ba-Abbad, Rola, Downes, Susan M., Bird, Alan, Webster, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902164/
https://www.ncbi.nlm.nih.gov/pubmed/31804667
http://dx.doi.org/10.1001/jamaophthalmol.2019.4959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902164/
https://www.ncbi.nlm.nih.gov/pubmed/31804667
http://dx.doi.org/10.1001/jamaophthalmol.2019.4959

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