Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.K188I
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DYRK1A

NM_001396.5:p.K188I

Associated Papers

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J et al.

European Journal of Human Genetics : Ejhg, 2015

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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."