OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

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Authors

Bastien Le Roux · Centre Hospitalier Universitaire d'Angers

Guy Lenaers · Inserm

Xavier Zanlonghi · Clinique Jules Verne

Patrizia Amati‐Bonneau · Université d'Angers

Floris Chabrun · Centre Hospitalier Universitaire d'Angers

Thomas Foulonneau · Inserm

Angélique Caignard ·

Abstract

The evolution of the OPA1 database towards the LOVD, using unified nomenclature, should ensure its interoperability with other databases and prove useful for molecular diagnoses based on gene-panel sequencing, large-scale mutation statistics, and genotype-phenotype correlations.

Topics & Keywords

Mitochondrial Function and Pathology ATP Synthase and ATPases Research Protein Tyrosine Phosphatases

Publication Details

Published in: Orphanet Journal of Rare Diseases

Volume 14, Issue 1, pp. 214-214

DOI: 10.1186/s13023-019-1187-1

Field-Weighted Citation Impact: 2.91

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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Authors

Abstract

Topics & Keywords

Publication Details