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Fig. 2 | Neural Development

Fig. 2

From: Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Fig. 2

Four pathways significantly associated with human neural tube defects. In the present study, PDRVs in genes functioning in four pathways have been explored being associated with the current NTD cohort, they are (a) chromatin modification; (b) apoptosis; (c) retinoid metabolism related genes; and (d) lipid metabolism. The occurrences of missense variants are shown as green font; of splicing variants are shown as blue; of frameshift variants are shown as purple. The background color of different phenotypes are same as in Fig. 1. (e) Polygenic or digenic genetic PDRVs were observed in the present NTD cohort. The columns represent the number of NTD cases who carries certain numbers of PDRVs in different genes

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Neural Development

ISSN: 1749-8104