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Fig. 4 | Neural Development

Fig. 4

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

Fig. 4

Summary on PDRVs burden genes related functional pathways in cranial NTDs. (a) Summary of PDRVs in all 177 NTDs cases who display NTDs phenotype in cranial regions with or without spinal regions. (b) Summary in cases who have only cranial NTD phenotypes. (c-f) show summaries of PDRVs burden genes and their functional pathways in cases affected with only anencephaly (c); only encephalocele (d); only frontal encephalocele (e); only occipital encephalocele (f). Numbers in brackets means occurrences of PDRVs in each gene, numbers or gene symbols in green represent missense PDRVs; in blue represent splicing PDRVs; in purple represents frameshift PDRVs. Gene symbols linking with colon represents two concurrent PDRVs in case

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