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Details on Person Reis, André
| Class:Id | Person:2453894 |
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| _displayName | Reis, André |
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| _timestamp | 2012-08-17 13:27:29 |
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| created | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
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| firstname | André |
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| initial | A |
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| surname | Reis |
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| (author) | [LiteratureReference:2453832] Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
[LiteratureReference:5229105] Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
[LiteratureReference:5605144] Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma
[LiteratureReference:9916878] HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders |
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No pathways have been reviewed or authored by Reis, André (2453894)
