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Author

Yue-Fang Liu

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Case report Open access Aug 2026

Case Report: Functional validation of a PKD1 c.7489 + 5G>A variant in an ADPKD family

A pathogenic splicing variant in PKD1 is validated and successfully applied PGT-M to prevent disease transmission, resulting in an unaffected pregnancy and subsequent prenatal diagnosis confirmed the absence of the variant and a normal chromosomal karyotype.

Qiong Pan, Yue-Fang Liu, Xueping Sun et al. · 0 citations

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