Associated Papers
Profiling PIK3CA variants in disorders of somatic mosaicism.
Mojarad BA et al.
Genetics in Medicine Open, 2023
39669231 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park HJ et al.
Orphanet Journal of Rare Diseases, 2020
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G et al.
Jci Insight, 2016
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