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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAM8

Variant:p.C167W

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ADAM8

NM_001109.5:p.C167W

hg38:chr10:133273326 G>C

Associated Papers

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Kaasinen E et al.

Nature Communications, 2019

30890702 (PubMed )

Supplement: 41467_2019_9198_MOESM1_ESM.pdf

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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."