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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.Q2187R

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ABCA4

NM_000350.3:p.Q2187R

hg38:chr1:93998030 T>C

Associated Papers

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Stenirri S et al.

Clinical Chemistry, 2004

15192030 (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."