Varaico: Literature-Extracted Genetic Variants

Gene:KCTD13
Variant:p.A5del1
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KCTD13

NM_178863.5:p.A5del1

Associated Papers

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.

Sundberg M et al.

Nature Communications, 2021

34006844 (PubMed )
Supplement: 41467_2021_23113_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."