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A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.

Wenjing Zhao,Yinhong Zhang,Tao Lv,Jing He,Baosheng Zhu

Molecular genetics & genomic medicine（2023）

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Abstract
These data provide scientific evidence for the genetic diagnosis and precision clinical management.
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Key words
mutation,genotype–phenotype,genotype–phenotype
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