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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAH

Variant:p.V245A

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FAH

NM_000137.4:p.V245A

hg38:chr15:80173041 T>C

Associated Papers

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.

Jonkman MF et al.

Cell, 1997

9038345 (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."