Associated Papers
Novel mutation in EFEMP1 identified from two Chinese POAG families differentially activated endoplasmic reticulum stress markers and induced glaucoma in mouse.
Xiao X et al.
Journal of Cellular Biochemistry, 2024
Impact of EFEMP1 on the survival outcome of biliary atresia in Thai infants.
Laochareonsuk W et al.
Scientific Reports, 2022
Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.
Woodard DR et al.
Scientific Reports, 2021
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Liu T et al.
Molecular Vision, 2020
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs
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