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Article

Integrative data mining highlights candidate genes for monogenic myopathies.

PloS one - 1 Jan 2014

Abath Neto Osorio, Tassy Olivier, Biancalana Valérie, Zanoteli Edmar, Pourquié Olivier, Laporte Jocelyn

Abstract excerpt

Inherited myopathies are a heterogeneous group of disabling disorders with still barely understood pathological mechanisms. Around 40% of afflicted patients remain without a molecular diagnosis after exclusion of known genes. The advent of high-throughput sequencing has opened avenues to the discovery of new implicated genes, but a working list of prioritized candidate genes is necessary to deal with the...

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PMID: 25353622
DOI: 10.1371/journal.pone.0110888
PMCID: PMC4213015

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

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