Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V987G
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ABCA4

NM_000350.3:p.V987G

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 › S1_ACMG_Categorisation.xlsx › Overview_S1

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.

Liu X et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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