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MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

Human mutation - 1 Jun 2016

Shen Lishuang, Diroma Maria Angela, Gonzalez Michael, Navarro-Gomez Daniel, Leipzig Jeremy, Lott Marie T, van Oven Mannis, Wallace Douglas C, Muraresku Colleen Clarke, Zolkipli-Cunningham Zarazuela, Chinnery Patrick F, Attimonelli Marcella, Zuchner Stephan, Falk Marni J, Gai Xiaowu

Abstract excerpt

MSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. A central Web portal (https://mseqdr.org) integrates community knowledge from expert-curated databases with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26919060
DOI: 10.1002/humu.22974
PMCID: PMC4846568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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