Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.D1532E
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ABCA4

NM_000350.3:p.D1532E

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

Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.

Chen B et al.

Experimental Eye Research, 2010

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