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ARPC1B

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News article: Toronto doctors identify new disease in children caused by defective gene

10.1038/ncomms14816: Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.

Three ARPC1B mutations, all pathogenic when inherited recessively (or as compound heterozygotes) are described:

  • c.269_270dupCT, p.Val91Trpfs*30
  • c.314C>T, p. Ala105Val
  • c.712G>A, p.Ala238Thr