Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P5-dominant
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.
Zhu R et al.
Molecular Genetics & Genomic Medicine, 2020
32783365 (PubMed )
Supplement: MGG3-8-e1441-s004.xlsx › Table_S2
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