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Human PI3Kγ Deficiency with Immunodeficiency and Tissue Immunopathology

ABSTRACT:

Whole exome sequencing of a trio (parents and offspring) reveals PIK3CG mutations that result in loss of protein in the child with immunodeficiency and immunopathology.

PROVIDER: phs001848 | dbGaP |

REPOSITORIES: dbGaP

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Dataset's files

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			Action	DRS
	GapExchange_phs001848.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001848.PI3KgammaDeficiency.v1.p1.MULTI.pdf	Pdf
	manifest_phs001848.PI3KgammaDeficiency.v1.p1.c1.HMB-IRB.pdf	Pdf
	datadict_v2.xsl	Other

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