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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Huvudupphovsmän: Reynolds, Annie, McDearmid, Jonathan R., Lachance, Stephanie, De Marco, Patrizia, Merello, Elisa, Capra, Valeria, Gros, Philippe, Drapeau, Pierre, Kibar, Zoha
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2010
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Article
Länkar: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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