Investigation of copy number variations as possible genetic modifiers in patients with the 22q11.2 deletion syndrome

Author(s)

Nunes, Beatriz Carvalho ; Zamariolli, Malu ; Dantas, Anelisa Gollo ; Queiroz Soares, Diogo Cordeiro ; Kim, Chong Ae ; Melaragno, Maria Isabel

• Document type: Journal article
• Source: European Journal of Human Genetics; v. 31, p. 1-pg., 2023-05-11.
• 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
• FAPESP's process: 20/04975-0 - Investigation of possible genetic modifiers in patients with the 22q11.2 deletion syndrome
• Grantee: Beatriz de Carvalho Nunes
• Support Opportunities: Scholarships in Brazil - Scientific Initiation