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Chromosome 22q11.2 inherited microduplication associated with a severe phenotype with limb defects

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Author(s):
Nunes, Beatriz Carvalho ; Silveira, Henrique Garcia ; Toccoli, Giovana Manilli ; Nunes, Natalia ; Meloni, Vera Ayres ; Kim, Jihye ; Melaragno, Maria Isabel
Total Authors: 7
Document type: Journal article
Source: European Journal of Human Genetics; v. 32, p. 1-pg., 2024-01-01.
FAPESP's process: 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype
Grantee:Maria Isabel de Souza Aranha Melaragno
Support Opportunities: Research Projects - Thematic Grants