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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEATR6

Variant:p.A917V

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HEATR6

NM_022070.5:p.A917V

hg38:chr17:60047328 G>A

Associated Papers

ABC1: the gene for Tangier disease and beyond.

Ordovas JM

Nutrition Reviews, 2000

10812922 (PubMed )

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

Bodzioch M et al.

Nature Genetics, 1999

10431237 (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."