Fig. 7From: Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypesSummary on PDRVs burden genes related functional pathways in cranial and spinal complex phenotypes. Summary of PDRVs burden genes in cases affected with anencephaly and spinal NTD phenotypes (a-c), or encephalocele and spinal NTD phenotypes (d-i). 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 caseBack to article page