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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA1

Variant:p.D769D

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ABCA1

NM_005502.4:p.D769D

hg38:chr9:104826978 G>A

Associated Papers

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

Clark GR et al.

Ophthalmology, 2010

20591486 (PubMed )

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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."