Varaico: Literature-Extracted Genetic Variants

Gene:KCNK12
Variant:p.Y292S
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KCNK12

NM_022055.2:p.Y292S

Associated Papers

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM3_ESM.xlsx › LancetAnalysis
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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."