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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly
Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite...
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| I publikationen: | Clin Genet |
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| Huvudupphovsmän: | , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Blackwell Publishing Ltd
2018
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5887939/ https://ncbi.nlm.nih.gov/pubmed/29205322 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13189 |
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