Loss-of-function de novo mutations play an important role in severe human neural tube defects
Loss-of-function de novo mutations play an important role in severe human neural tube defects
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England: BMJ Publishing Group LTD
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Language
English
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England: BMJ Publishing Group LTD
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BackgroundNeural tube defects (NTDs) are very common and severe birth defects that are caused by failure of neural tube closure and that have a complex aetiology. Anencephaly and spina bifida are severe NTDs that affect reproductive fitness and suggest a role for de novo mutations (DNMs) in their aetiology.MethodsWe used whole-exome sequencing in 4...
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Loss-of-function de novo mutations play an important role in severe human neural tube defects
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TN_cdi_proquest_miscellaneous_1808632044
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808632044
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103027
