Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G963A
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ABCA4

NM_000350.3:p.G963A

Associated Papers

Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy.

Müller PL et al.

Translational Vision Science & Technology, 2019

31879568 (PubMed )
Supplement: tvst-08-06-20_s02.pdf

Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.

Suárez T et al.

The Journal of Biological Chemistry, 2002

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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."