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  • 検索条件 : 絞込み (MeSH = Exome)
生物種 リソース名 タイトル
ショウジョウバエ Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila.
ヒト・動物細胞 HuCCT1(RCB1960) Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma.
線虫 tm1830 , tm324 , tm925 , tm2322 , tm3100 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
遺伝子材料 Genome Network Project Human cDNA IRAL058O23 (HGY103559). Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
ヒト・動物細胞 OCUB-M(RCB0881) Discovery of biomarkers predictive of GSI response in triple-negative breast cancer and adenoid cystic carcinoma.
遺伝子材料 GNP Clone IRAK168I21 (HGY067413) A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population.
ゼブラフィッシュ Tg(chx10:GFP)/nns1 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
遺伝子材料 pCMV-TUBA1A flag-WT (RDB14140) , pCMV-TUBA1A flag-R64W (RDB14141) , pCMV-TUBA1A flag-C25F (RDB14142) , pCMV-TUBA1A flag-R402C (RDB14143) , pCMV-TUBA1A myc-WT (RDB14144) , pCMV-TUBA1A myc-R64W (RDB14145) , pCMV-TUBA1A myc- C25F (RDB14146) , pCMV-TUBA1A myc- R402C (RDB14147). TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
オオムギ Barley seed samples Mapping-by-sequencing identifies HvPHYTOCHROME C as a candidate gene for the early maturity 5 locus modulating the circadian clock and photoperiodic flowering in barley.
遺伝子材料 CSII-CMV-RfA (RDB04386) Genomic Sequencing Identifies ELF3 as a Driver of Ampullary Carcinoma.
実験動物マウス RBRC02227 Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.