From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases
Author:
Publisher
Cold Spring Harbor Laboratory
Subject
General Medicine
Reference14 articles.
1. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins
2. Autosomal recessive cerebellar ataxia caused by a homozygous mutation inPMPCA
3. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities;Mol Genet Metab,2015
4. PhenoTips: Patient Phenotyping Software for Clinical and Research Use
5. GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis
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2. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum;Annals of Neurology;2023-08-12
3. Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy;Cells;2022-09-11
4. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation;Human Mutation;2020-11-10
5. Mitochondrial Disease Genes Compendium: connecting with knowledge in the Mitochondrial Disease Sequence Data Resource (MSeqDR);Mitochondrial Disease Genes Compendium;2020
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