Associated Papers
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH et al.
Ophthalmic Genetics, 2023
37259572 (PubMed )
Supplement: supplement_1.pdf
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
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA et al.
Cold Spring Harbor Molecular Case Studies, 2020
32014858 (PubMed )
Supplement: supp_mcs.a004754_Supplemental_Material.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I et al.
Molecular Genetics & Genomic Medicine, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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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