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
ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I et al.
Molecular Genetics & Genomic Medicine, 2018
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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