論文 - 詳細
RRC ID | 65370 |
---|---|
著者 | Lange KI, Tsiropoulou S, Kucharska K, Blacque OE. |
タイトル | Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. |
ジャーナル | Dis Model Mech |
巻・号 | 14(1) |
公開日 | 2021-1-1 |
DOI | 10.1242/dmm.046631 |
PII | dmm.046631 |
PMID | 33234550 |
PMC | PMC7859701 |
MeSH | Abnormalities, Multiple / genetics* Abnormalities, Multiple / physiopathology Alleles Animals CRISPR-Cas Systems Caenorhabditis elegans / genetics* Caenorhabditis elegans Proteins / metabolism Cerebellum / abnormalities* Cerebellum / physiopathology Cilia / metabolism* Disease Models, Animal Eye Abnormalities / genetics* Eye Abnormalities / physiopathology Gene Editing Genetic Association Studies Genotype Humans Kidney Diseases, Cystic / genetics* Kidney Diseases, Cystic / physiopathology Membrane Proteins / metabolism Mutation Mutation, Missense* Phenotype Retina / abnormalities* Retina / physiopathology |
リソース情報 | |
線虫 | tm2452 tm925 |