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Phenotypes of patients homozygous and/or heterozygous for the c. 2299insC reported in the literature.

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Figshare2015-12-02 更新2026-04-29 收录
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a. The identified c.2298–2299insC is referred to as c.2299insC.b. The majority of asymptomatic patients in this study had transaminitis or hepatomegaly.c. Asymptomatic transaminitis.d. Asymptomatic fatty liver.e. Unidentified or not reported.Phenotypes of patients homozygous and/or heterozygous for the c. 2299insC reported in the literature.
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2015-12-02
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