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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCC6

Variant:p.D1168_R1169del1

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ABCC6

NM_001171.6:p.D1168_R1169del1

hg38:chr16:16162993 CTGT>C

Associated Papers

Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.

Mishra AV et al.

Ophthalmic Genetics, 2024

37259549 (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."