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Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
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Supplement: PCMR-38-0-s002.xlsx › Table_S2
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
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Human Mutation, 2023
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Supplement: 6815504.f1.zip › S9_PS1_PM5.xlsx › Splicing
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
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Frontiers in Genetics, 2021
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