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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB6

Variant:p.L515P

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ABCB6

NM_005689.4:p.L515P

hg38:chr2:219213860 A>G

Associated Papers

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

Cao L et al.

Bmc Medical Genomics, 2021

34174894 (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."