Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G1862fs
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ABCA4

NM_000350.3:p.G1862fs

Associated Papers

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

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."