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  • 検索条件 : 絞込み (MeSH = Cerebellum / abnormalities*)
生物種 リソース名 RRC ID タイトル ジャーナル 公開日 外部リンク
線虫 tm2452 , tm925 65370 Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. Dis Model Mech 2021-1-1 Pubmed Full text
線虫 tm1830 , tm324 , tm925 , tm2322 , tm3100 53444 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol 2015-12-29 Pubmed Full text
線虫 tm925 , tm3083 45588 TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol 2016-1-1 Pubmed Full text
ゼブラフィッシュ isl1:GFP/rw0 33637 EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun 2014-7-3 Pubmed Full text
ラット HOB/Snk(strainID=154) , F344.CVD-Unc5ccvd/Kyo(strainID=153) 100 Rat mutations cvd and hob with cerebellar malformations map to chromosome 2. Exp Anim 2004-1-1 Pubmed Full text
ラット F344.CVD-Unc5ccvd/Kyo(strainID=153) 97 Rat neurological mutations cerebellar vermis defect and hobble are caused by mutations in the netrin-1 receptor gene Unc5h3. Brain Res Mol Brain Res 2004-3-30 Pubmed Full text
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