Associated Papers
Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis.
Yamaguchi J et al.
Acta Neuropathologica Communications, 2024
39456052 (PubMed )
Supplement: 40478_2024_1879_MOESM3_ESM.xlsx › NGY-R2B
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › INDEL_merged_freq._deleterious
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