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Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking

Crossref DOI link: https://doi.org/10.1186/s12920-025-02088-6

Published Online: 2025-01-23

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Li, Xiao-Yao

Zhang, Bei-Yuan

Liang, Xin-Ran

Han, Yan-Yu

Cheng, Min-Hua

Wei, Mei

Cao, Ke

Chen, Xian-Cheng

Chen, Ming

Duan, Jian-Feng

Yu, Wen-Kui
Funding

Funding for this research was provided by:

the Affiliated Drum Tower Hospital, Medical School of Nanjing University (2021-LCYJ-PY-40)

the National Natural Science Foundation of China (82302442)
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Text and Data Mining valid from 2025-01-23

Version of Record valid from 2025-01-23
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Article History

Received: 16 November 2024

Accepted: 13 January 2025

First Online: 23 January 2025

Declarations

:

: The study was approved by the Ethics Committee of Nanjing Drum Tower Hospital (2021-370-02) and was conducted under the Declaration of Helsinki ethical principles for medical research involving human subjects. Informed consent was obtained from the children’s parents. All participants provided both written and verbal consent to be part of this study.

: Written informed consent for publication of clinical details was obtained from the guardians of the patient.

: The authors declare no competing interests.

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