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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Clin Genet
मुख्य लेखकों: Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Blackwell Publishing Ltd 2018
विषय:
ऑनलाइन पहुंच: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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