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Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes

BACKGROUND: Large databases permit quantitative description of genes in terms of intolerance to loss of function (‘haploinsufficiency’) and prevalence of missense variants. We explored these parameters in inherited retinal disease (IRD) genes. METHODS: IRD genes (from the ‘RetNet’ resource) were cla...

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Detalles Bibliográficos
Autores principales:	Tanner, Alexander, Chan, Hwei Wuen, Schiff, Elena, Mahroo, Omar A, Pulido, Jose S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422814/ https://www.ncbi.nlm.nih.gov/pubmed/36161854 http://dx.doi.org/10.1136/bmjophth-2022-001079

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