The contribution of de novo coding mutations to meningomyelocele

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2025-03-27 20:16:14 - Traduire -

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Nature, Published online: 26 March 2025; doi:10.1038/s41586-025-08676-xExome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure.

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