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Search Condition : Filter (MeSH = Neurodevelopmental Disorders / diagnostic imaging)
Species
Resource
RRC ID
Title
Journal
Published
Link
DNA material
Genome Network Project Human cDNA IRAK115J05 (HGX046221)
49236
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.
Clin Genet
2018-2-1
Pubmed
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