Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

"availability of data and materials the raw data are available from node ( http://www biosino org/node ) under accession number oep000656."

"Declarations Ethics approval and consent to participateThis study adhered to the tenets of the Declaration of Helsinki. All experiments and study protocols were approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University. Written informed consent was obtained from all participants, or from their guardians on behalf of minors or child participants.This study followed the principles of the 2008 version of the Declaration of Helsinki and was approved by the ethics committee of Zhengzhou University, Zhengzhou, China. We obtained informed consent from the child’s guardian for this research and publication. Consent for publicationNot applicable. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

"Funding This study was funded the Key R&D (research and development) and Promotion Projects in Henan Province (Science and Technology Research) (grant no. 202102310655)."