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Custom-built

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🌠 Phenomenal Traffic: 5M - 10M visitors per month


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Keywords {🔍}

nsun, mitochondrial, variants, doi, pmc, article, rna, disease, pubmed, google, scholar, seizures, fig, encephalomyopathy, free, nlm, earlyonset, missense, cgc, pap, cta, pcs, patient, functional, analysis, probands, ncbi, search, gene, studies, pathogenic, molecular, research, subjects, database, biallelic, mutations, methyltransferase, silico, modification, protein, reported, human, patients, study, india, genetic, unaffected, open, thangaraj,

Topics {✒️}

early-onset mitochondrial encephalomyopathy post-transcriptional modification events standard phenol-chloroform method pmc beta search mitochondrial-related nuclear genes catalytic rna-protein complexes pmc copyright notice nsun3-related mitochondrial disease silico functional analysis confirmed impair nsun3-mediated methylation post-transcriptional modification mt-trnamet point mutations informed written consent human mitochondrial trna exome aggregation consortium 3730xl genetic analyzer rna chemical modifications mitochondrial nuclear genes human mitochondrial genome methods patient cohort publisher site pdf biallelic nsun3 variants nsun3 missense variants license information pmcid previously reported variants rna modification pathways combined oxidative phosphorylation applied bio-systems institutional ethical committee multisystem mitochondrial disease highly conserved region amino acid change missense variants reside decreased mitochondrial activity promoting mitochondrial activity human diseases linked genome aggregation database machnicka ma identified missense variants silico functional analysis south asian patient potential functional impact pmc disclaimer remain poorly characterised generate overlapping amplicons auto-assembler software pathogenicity prediction programs global developmental delay segregation studies confirmed evolutionary conservation data

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