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Numerous bioinformatic computer software ended up being useful for the pathogenicity assessment. Reverse transcription polymerase string effect (RT-PCR), real time quantitative PCR, and a chromosomal uncertainty study induced by mitomycin C were carried out to evaluate the practical ramifications of the variation. OUTCOMES A novel homozygous frameshift mutation (NM_032485.4c.351_354delAAAG) of MCM8 gene was identified in the clients, segregated with POI in this family members. This mutation
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