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Titin mutation segregates with hereditary myopathy with early respiratory failure
Download from www.ncbi.nlm.nih.govA new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Download from www.researchgate.netA common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Download from circgenetics.ahajournals.orgNDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome
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