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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

Neural tube defects (NTDs) remain one of the most serious birth defects, and although genes in several pathways have been implicated as risk factors for neural tube defects via knockout mouse models, very few molecular causes in humans have been identified. Whole exome sequencing identified deleteri...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Spellicy, Catherine J., Norris, Joy, Bend, Renee, Bupp, Caleb, Mester, Paul, Reynolds, Tracy, Dean, Jane, Peng, Yunhui, Alexov, Emil, Schwartz, Charles E., Stevenson, Roger S., J. Friez, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838979/
https://ncbi.nlm.nih.gov/pubmed/29358613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0025-y
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