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Journal Articles (2)

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Investigative Ophthalmology & Visual Science (2)

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Genetics (2)

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Eye Anatomy and Disorders (2)
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genes (2)
alleles (1)
choroideremia (1)
eye (1)
family (1)
genotype-phenotype associations (1)
rna splicing (1)
segregation analysis (1)
stargardt's disease (1)

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Genetics February 2020

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

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Mariana Matioli da Palma; Fabiana Louise Motta; Caio Perez Gomes; Mariana Vallim Salles; João Bosco Pesquero; Juliana Maria Ferraz Sallum
TAGS: choroideremia, genes, rna splicing, eye
Invest. Ophthalmol. Vis. Sci.. 2020; 61(2):38. doi: https://doi.org/10.1167/iovs.61.2.38

Genetics November 2017

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation

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Mariana Vallim Salles; Fabiana Louise Motta; Elton Dias da Silva; Patricia Varela; Kárita Antunes Costa; Rafael Filippelli-Silva; Renan Paulo Martin; John (Pei-Wen) Chiang; João Bosco Pesquero; Juliana Maria Ferraz Sallum
TAGS: alleles, genes, genotype-phenotype associations, stargardt's disease, segregation analysis, family
Invest. Ophthalmol. Vis. Sci.. 2017; 58(13):5723-5730. doi: https://doi.org/10.1167/iovs.17-22398

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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