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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLHL12

Variant:p.V50A

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KLHL12

NM_021633.4:p.V50A

hg38:chr1:202925014 A>G

Associated Papers

Structural basis for dimerization quality control.

Mena EL et al.

Nature, 2020

32814905 (PubMed )

Dimerization quality control ensures neuronal development and survival.

Mena EL et al.

Science (new York, N.y.), 2018

30190310 (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."