Research Article
Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
Table 1
Polymorphic variants in NANOS3 identified in POI patients and controls.
| | | Genotype frequency (%) | Variant | dbSNP id | Patients with POI | Controls | | | Wild-type | Heterozygote | Homozygote | Wild type | Heterozygote | Homozygote |
| c.-23C>T (5′ UTR) | rs897790 | 60 | 34.1 | 5.9 | 72.5 | 25.7 | 1.8 | c.353A>G (exon 1, synonymous) | rs2016163 | 50.6 | 40 | 9.4 | 70 | 27.4 | 2.6 |
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