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 › S4_PS4_PM2.xlsx › PS4_AF_FET_PM2_rare
Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease.
Dan H et al.
Annals of Human Genetics, 2020
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
Huang L et al.
Scientific Reports, 2017
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