Associated Papers
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M et al.
International Journal of Molecular Sciences, 2023
37445847 (PubMed )
Supplement: ijms-24-10670-s001.zip › ijms-2443350-supplementary.pdf
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.
Shah SM et al.
Retinal Cases & Brief Reports, 2021
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
Audo I et al.
Human Mutation, 2011
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