Fig. 1: Domain structure of the longest PIK3R1 protein product showing distribution of monogenic disease-associated variants. | Genetics in Medicine

Fig. 1: Domain structure of the longest PIK3R1 protein product showing distribution of monogenic disease-associated variants.

From: Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Fig. 1

Variants described in this study in association with a vascular malformation/overgrowth phenotype (top row). Variants described as pathogenic or likely pathogenic in the ClinVar database (accessed 13 November 2020 and filtered to encompass only variation less than 51 bp and with a described genetic condition) associated with SHORT syndrome (middle row) or activated PI3K-delta syndrome 2 (bottom row).

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