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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP12A

Variant:p.I412F

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ATP12A

NM_001676.7:p.I412F

hg38:chr13:24692594 A>T

Associated Papers

Expression signature of epidermolysis bullosa simplex.

Bchetnia M et al.

Human Genetics, 2012

21877134 (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."