Associated Papers
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
Epting D et al.
Human Molecular Genetics, 2022
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