Associated Papers
Biliary, Renal, Neurological, and Skeletal syndrome in a Chinese boy.
Yang W et al.
Pediatric Nephrology (berlin, Germany), 2025
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_MOESM26_ESM.xlsx › Sheet1
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
Alfadhel M et al.
Molecular Syndromology, 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
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
Shaheen R et al.
Hepatology (baltimore, Md.), 2020
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