Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant

Research report

Bibliographic Details
Main Author: Pereira, Sandra (author)
Other Authors: Adrião, Mariana (author), Sampaio, Mafalda (author), Basto, Margarida Ayres (author), Rodrigues, Esmeralda (author), Vilarinho, Laura (author), Teles, Elisa Leão (author), Alonso, Isabel (author), Leão, Miguel (author)
Format: article
Language:eng
Published: 2019
Subjects:
Amino Acyl
Exome Sequencing
Mitochondrial diseases
Mitochondrial Encephalopathy
RNA
Severe Epileptic Encephalopathy
Transfer
VARS2 gene
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/6265
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6265
Description
Summary:Research report

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