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並前往https://www.dovepress.com/a-novel-missense-mutation-in-twnk-gene-causing-perrault-syndrome-type--peer-reviewed-fulltext-article-PGPM

A Novel Missense Mutation in TWNK Gene | PGPM - Dove ...

Compound heterozygous variants with one novel variant c.1752C>A (p. ... helicase activity and result in the stalling of mtDNA replication.

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