Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G1154S
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ABCA4

NM_000350.3:p.G1154S

Associated Papers

Molecular genetics of inherited retinal degenerations in Icelandic patients.

Thorsteinsson DA et al.

Clinical Genetics, 2021

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Bocquet B et al.

Ophthalmic Epidemiology, 2013

Epidemiology of hereditary ocular disorders.

Rosenberg T

Developments in Ophthalmology, 2003

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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."