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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB6

Variant:p.G197R

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ABCB6

NM_005689.4:p.G197R

hg38:chr2:219217768 C>T

Associated Papers

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Fukuda Y et al.

Nature Communications, 2016

27507172 (PubMed )

Supplement: ncomms12353-s1.pdf

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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."