Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement-Reference-Cited by-同舟云学术

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Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement

Published:2024 Issue:06 Volume:12 Page:7-12
ISSN:2327-5081
Container-title:Journal of Biosciences and Medicines
language:
Short-container-title:JBM

Author:

Matos-Neto Paulo Roberto,Verde Lucas Antonissen Lima,Ponte-Filho Airton Ferreira da,Matos Luís Eduardo Oliveira,Trés Amandha Espavier,Leal Paulo Roberto Lacerda,Cristino-Filho Gerardo,Carneiro Regina Coeli de Carvalho Porto

Publisher

Scientific Research Publishing, Inc.

Reference9 articles.

1. A novel VARS2 gene variant in a patient with epileptic encephalopathy

2. VARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report

3. (1997) Orphanet: An Online Database of Rare Diseases and Orphan Drugs. INSERM. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=23121

4. Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease

5. VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

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