Article

Functional analysis of a novel missense mutation c.1039A＞G of TUBB8 in infertile women

2025-05-16

Abstract excerpt

<title>Abstract</title> <p>The <italic>TUBB8</italic> gene is highly conserved in primates, and pathogenic mutations in this gene have been linked to defects in oocyte maturation, leading to infertility in women. This study aimed to identify a mutation in the <italic>TUBB8</italic> gene in a family with female infertility and functionally validate the identified mutation to confirm its pathogenicity. Genomic DNA...

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Literature Corpus work: ae608542-8ffd-5807-8937-d0315d4b20a2
DOI: 10.21203/rs.3.rs-6223500/v1

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