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Fig. 5 | Neural Development

Fig. 5

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

Fig. 5

Summary on PDRVs burden genes related functional pathways in spinal NTDs. Summary in cases affected with spinal NTD phenotype whatever who are with or without cranial NTD (a), or affected with only spinal NTD phenotypes (b), or with only spina bifida aperta (c), or with spina bifida cystica (d). 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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