Associated Papers
Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations.
Clark AM et al.
Jci Insight, 2024
37971880 (PubMed )
Supplement: jciinsight-9-162621-s010.pdf
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Rahner N et al.
Ophthalmic Genetics, 2016
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z et al.
Molecular Vision, 2015
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A et al.
American Journal of Human Genetics, 2012
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 0
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