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Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing

PURPOSE: Achromatopsia is a congenital autosomal recessive cone disorder, and it has been found to be associated with six genes. However, pathogenic variants in these six genes have been identified in patients with various retinal dystrophies with the exception of achromatopsia. Thus, this study aim...

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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: Sun, Wenmin, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Zhang, Qingjiong
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7479066/
https://ncbi.nlm.nih.gov/pubmed/32913385
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