Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
Wang Y et al.
Heliyon, 2024
Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.
Liu A et al.
Biomed Research International, 2022
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C et al.
Frontiers in Endocrinology, 2021
[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Cui D et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2008
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