Associated Papers
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S9_PS1_PM5.xlsx › Missense
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2022
35608843 (PubMed )
Supplement: iovs-63-5-28_s010.pdf
Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.
Zhu Q et al.
Frontiers in Cell and Developmental Biology, 2021
Impaired DNA-binding affinity of novel PAX6 mutations.
Lee S et al.
Scientific Reports, 2020
32080308 (PubMed )
Supplement: 41598_2020_60017_MOESM1_ESM.pdf
RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.
Katagiri S et al.
Journal of Ophthalmology, 2014
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