Associated Papers
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.
Nazlamova L et al.
Frontiers in Genetics, 2022
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Nazlamova L et al.
Human Genetics, 2021
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