Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant.

Publication Year: 2023

DOI:
10.1186/s12920-023-01712-7

PMCID:
PMC10614405

PMID:
37904145

Journal Information

Full Title: BMC Med Genomics

Abbreviation: BMC Med Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"data availability the sequence data during the current study are available in the ncbi sra under accession number prjna909219 ( https://www ncbi nlm nih gov/sra/? data availability the sequence data during the current study are available in the ncbi sra under accession number prjna909219"

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Evidence found in paper:

"Declarations Ethics approval and consent to participateAll procedures were in accordance with the Declaration of Helsinki. The study protocol was approved by the ethics committee of the Second Affiliated Hospital of Zhengzhou University (reference No. 2022373). All patients signed written informed consent. Consent for publicationNot Applicable. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding This work was supported by the Medical Science and Technology Project of Henan Province, China (Grant number: LHGJ20200421), and the Clinical Research Special Fund of Wu Jieping Medical Foundation (Grant number: 320.6750.18558(9))."

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025