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VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish
In humans, rare non-synonymous variants in the planar cell polarity gene VANGL1 are associated with neural tube defects (NTDs). These variants were hypothesized to be pathogenic based mainly on genetic studies in a large cohort of NTD patients. In this study, we validate the potential pathogenic eff...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2965831/ https://ncbi.nlm.nih.gov/pubmed/20043994 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mod.2009.12.002 |
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