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Egyptian Journal of Medical Human Genetics
Fig. 4 | Egyptian Journal of Medical Human Genetics

Fig. 4

From: Identification of primary copy number variations reveal enrichment of Calcium, and MAPK pathways sensitizing secondary sites for autism

Fig. 4

The calcium and MAPK signalling pathways contain autism genes CHRNA7, CACNA1H, CACNA1I, and DUSP22 across populations. Enrichment of CACNA1H is seen in AJI, AJII, New World, and Australia. Calcium signalling gene, CACNA1I, is present in AJI, AJII, New World, and Australia. In the case of the MAPK signalling pathway, the presence of CNVs in CACNA1I and CACNA1H were seen in AJI, AJII, Taiwan, New World, and Australia, while CNVs in DUSP22 were identified in AJI, AJII, and Taiwan. Further, CNVs in CACNA1C with enriched pathways for calcium and MAPK signalling were seen exclusively in Australia

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