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Fig. 3 | BMC Pediatrics

Fig. 3

From: Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

Fig. 3

Schematic representation of PIP5K1C variants identified to date. The structure of PIP5K1C contained 18 exons (green rectangles) and introns (grey horizontal line). Lower side: the PIP5K1C protein domains: PIPK domain (76-449aa). The localization of variants and substitutions identified is depicted with dots. Black: Variants reported in the literature or ClinVar database; Red: Novel variants identified in this study

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BMC Pediatrics

ISSN: 1471-2431

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