about
Ocular manifestations in the inherited DNA repair disorders.Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.Herpes zoster optic neuritisPathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
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description
researcher ORCID ID = 0000-0002-4308-1766
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wetenschapper
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name
Fernanda Porto
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Fernanda Porto
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Fernanda Porto
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Fernanda Porto
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type
label
Fernanda Porto
@ast
Fernanda Porto
@en
Fernanda Porto
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Fernanda Porto
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prefLabel
Fernanda Porto
@ast
Fernanda Porto
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Fernanda Porto
@es
Fernanda Porto
@nl
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P31
P496
0000-0002-4308-1766