Associated Papers
Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.
Li J et al.
Frontiers in Immunology, 2025
40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y et al.
Molecular Genetics & Genomic Medicine, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.
Huang X et al.
Indian Journal of Ophthalmology, 2017
[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].
Mei L et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2015
A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.
Liu D et al.
Molecular Vision, 2010
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.
Sugahara M et al.
Ophthalmic Genetics, 0
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