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- W4300690912 abstract "To explore the genetic etiology of a Chinese pedigree affected with infantile hepatitis syndrome.Genes associated with liver diseases subjected to high-throughput sequencing. Candidate variants were validated by Sanger sequencing of the proband and his parents. The pathogenicity of the variants was analyzed through bioinformatic analysis.High-throughput sequencing revealed that the proband has harbored c.182T>C (p.F61S) and c.293C>T (p.P98L) variants of the MPV17 gene, which were verified by Sanger sequencing to be inherited from his parents. The variant c.182T>C (p.F61S) was unreported previously and predicted to be likely pathogenic by bioinformatic analysis.The proband was caused by the compound heterozygous variations of MPV17 gene including c.182T>C (p.F61S) and c.293C>T (p.P98L). Discovery of the novel variant has enriched the spectrum of pathogenic variants of the MPV17 gene." @default.
- W4300690912 created "2022-10-04" @default.
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- W4300690912 date "2022-10-10" @default.
- W4300690912 modified "2023-09-29" @default.
- W4300690912 title "[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene]." @default.
- W4300690912 doi "https://doi.org/10.3760/cma.j.cn511374-20210718-00604" @default.
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