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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADH5

Variant:p.E354insFs

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ADH5

NM_000671.4:p.E354insFs

hg38:chr4:99072611 T>TTAGGGTCC

Associated Papers

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Grzeschik KH et al.

Nature Genetics, 2007

17546031 (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."