Associated Papers
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M et al.
International Journal of Molecular Sciences, 2023
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
Takahashi VKL et al.
Orphanet Journal of Rare Diseases, 2019
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
Audo I et al.
Human Mutation, 2011
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
Collin RW et al.
American Journal of Human Genetics, 2010
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