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Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA.

Human mutation - 1 Jan 2026

Shu Defeng, Liu Yi, Wang Xiaoli, Liang Tao, Wu Zubo

Abstract excerpt

Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the diagnostic precision of PGT. We presented a clinical strategy that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42253504
DOI: 10.1155/humu/2768102
PMCID: PMC13240384

Genes

CUL3
EXT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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