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Targeted Next Generation Sequencing Identifies Novel Pathogenic Variants and Provides Molecular Diagnoses in a Cohort of Pediatric and Adult Patients with Unexplained Mitochondrial Dysfunction

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P-00Q-E12

Author(s)

Nogueira, C

Silva, L

Pereira, C

Vieira, L

Teles, EL

Rodrigues, E

Campos, T

Janeiro, P

Gaspar, A

Dupont, J

Bandeira, A

Martins, E

Magalhaes, M

Sequeira, S

Vieira, JP

Santos, H

Vilarinho, S

Vilarinho, L

Tipo de Documento

Article

Year published

2019

Publicado

in MITOCHONDRION, ISSN: 1567-7249

Volume: 47, Páginas: 309-317 (9)

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Publication Identifiers

DOI: 10.1016/j.mito.2019.02.006

Pubmed: 30831263

SCOPUS: 2-s2.0-85063323183

Wos: WOS:000475547200034

Source Identifiers

ISSN: 1567-7249

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Targeted Next Generation Sequencing Identifies Novel Pathogenic Variants and Provides Molecular Diagnoses in a Cohort of Pediatric and Adult Patients with Unexplained Mitochondrial Dysfunction

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Targeted Next Generation Sequencing Identifies Novel Pathogenic Variants and Provides Molecular Diagnoses in a Cohort of Pediatric and Adult Patients with Unexplained Mitochondrial Dysfunction

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