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Recurrent Rare Copy Number Variants Increase Risk for Esotropia

PURPOSE: To determine whether rare copy number variants (CNVs) increase risk for comitant esotropia. METHODS: CNVs were identified in 1614 Caucasian individuals with comitant esotropia and 3922 Caucasian controls from Illumina SNP genotyping using two Hidden Markov model (HMM) algorithms, PennCNV an...

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Detalles Bibliográficos
Autores principales: Whitman, Mary C., Di Gioia, Silvio Alessandro, Chan, Wai-Man, Gelber, Alon, Pratt, Brandon M., Bell, Jessica L., Collins, Thomas E., Knowles, James A., Armoskus, Christopher, Pato, Michele, Pato, Carlos, Shaaban, Sherin, Staffieri, Sandra, MacKinnon, Sarah, Maconachie, Gail D E., Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Mackey, David A., Hunter, David G., Engle, Elizabeth C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443120/
https://www.ncbi.nlm.nih.gov/pubmed/32780866
http://dx.doi.org/10.1167/iovs.61.10.22

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