Varaico: Literature-Extracted Genetic Variants

Gene:KCNC3
Variant:p.P70_G71del1
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KCNC3

NM_004977.3:p.P70_G71del1

Associated Papers

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Blackburn PR et al.

The Journal of Biological Chemistry, 2017

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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."