Clinical findings on chromosome 1 copy number variations

Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute for chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs. A cross-sectio...

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Detalhes bibliográficos
Autor principal: Filipa Batista Ferreira Leitão (author)
Formato: masterThesis
Idioma:eng
Publicado em: 2021
Assuntos:
Texto completo:https://hdl.handle.net/10216/134521
País:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/134521