Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q1897*
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ABCA4

NM_000350.3:p.Q1897*

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 › S2_PVS1.xlsx › Nonsense_or_Frameshift

Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial.

Parker MA et al.

Translational Vision Science & Technology, 2016

27730010 (PubMed )
Supplement: i2164-2591-5-5-10-s01.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."