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A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity
Mutations in G protein-coupled receptors (GPCRs) that increase constitutive signaling activity can cause human disease. A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurolo...
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| 出版年: | Hum Mutat |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5679302/ https://ncbi.nlm.nih.gov/pubmed/28891236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23336 |
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