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Fig. 7 | Neural Development

Fig. 7

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

Fig. 7

Summary 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 case

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