Article

ARPC5 deficiency leads to severe early onset systemic inflammation and early mortality

2023-01-21

Abstract excerpt

The seven subunit Arp2/3 complex drives the formation of branched actin networks that are essential for many cellular processes including cell migration. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded by two paralogous genes ( ARPC5 and ARPC5L ), resulting in proteins with 67% identity. Through whole-exome sequencing, we identified a biallelic ARPC5 frameshift variant in a female child who present...

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Literature Corpus work: 1f997f79-67d1-58c1-b286-8cbf4fc01e75
DOI: 10.1101/2023.01.19.524688

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