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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTS6

Variant:p.R70R

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ADAMTS6

NM_197941.4:p.R70R

hg38:chr5:65471032 T>G

Associated Papers

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )

Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

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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."