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Details on Person Rauch, Anita
| Class:Id | Person:2453901 |
| _displayName | Rauch, Anita |
| _timestamp | 2012-08-17 13:27:32 |
| created | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
| firstname | Anita |
| initial | A |
| surname | Rauch |
| (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:6790346] Germline KRAS mutations cause Noonan syndrome [LiteratureReference:9823180] Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome [LiteratureReference:9941281] Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities |
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No pathways have been reviewed or authored by Rauch, Anita (2453901)