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Reference Patent

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  • Search Condition : Filter (MeSH = Neurodevelopmental Disorders / pathology)
Species Resource RRC ID Title Journal Published Link
Drosophila , Human and Animal Cells 293T(RCB2202) 70108 Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. Am J Med Genet A 2021-7-1 Pubmed Full text
Drosophila DGRC#140400 64510 Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. PLoS Genet 2021-4-1 Pubmed Full text
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 Full text
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