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  • 検索条件 : 絞込み (MeSH = Age of Onset)
生物種 リソース名 タイトル
ヒト・動物細胞 Epstein-Barr virus–transformed B-cell lines derived from 92 healthy Japanese subjects Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis.
ゼブラフィッシュ Tg(cmlc2:Mermaid) Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
ショウジョウバエ 1063R-2 Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila.
ショウジョウバエ 6756R-1 De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
線虫 tm5221 , tm5790 , tm4876 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
ヒト・動物細胞 COS-7(RCB0539) Polyglutamine expansion mutation yields a pathological epitope linked to nucleation of protein aggregate: determinant of Huntington's disease onset.