Associated Papers
Syntaxin 3 regulates apical membrane integrity in proximal tubule epithelial cells and prevents Fanconi syndrome development.
Okushima H et al.
Kidney International, 2025
Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
Sun M et al.
Cellular and Molecular Gastroenterology and Hepatology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Janecke AR et al.
Human Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
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