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Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review

Crossref DOI link: https://doi.org/10.1007/s00438-023-02002-8

Published Online: 2023-03-11

Published Print: 2023-05

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

Authors

Guo, Zihan

Gong, Anyue

Liu, Shiguo https://orcid.org/0000-0001-6474-4082
Liang, Hui https://orcid.org/0000-0003-4702-8468
Funding

Funding for this research was provided by:

National Key Research and Development Program of China (2016YFC1000306)
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Article History

Received: 28 July 2022

Accepted: 20 February 2023

First Online: 11 March 2023

Declarations

:

: The authors declare no competing interests.

: This study was approved by the Ethics Committee of the Affiliated Hospital of Qingdao University.

: Written informed consent was obtained from the parents.

: Patients signed informed consent regarding publishing their data and photographs.

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