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A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.

Ying Y, Ye J, Chen Y, Chen Q, Chen Y, Lu X, Xi H, Gu F, Pan D, Zhao J
Clin Chim Acta. 2022 Feb 1;526:14-20. doi: 10.1016/j.cca.2021.12.023. Epub 2021 Dec 28. (Link opens in a new window) PubMed (Link opens in a new window) Article

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