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searching for pIK3R1 2 found (36 total)

alternate case: PIK3R1

SHORT syndrome (254 words) [view diff] exact match in snippet view article find links to article

characteristics and molecular genetic testing that will show a mutation on gene PIK3R1 (5q13.1), which codifies the regulating alpha subunit of phosphatidylinositol
Activated PI3K delta syndrome (632 words) [view diff] exact match in snippet view article find links to article
subunit of PI3Kδ, APDS-2 (PASLI-R1) is caused by exon-skipping mutations in PIK3R1 which encodes for the regulatory subunit p85α. APDS and APDS-2 affected