Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.K228E
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NKX2-5

NM_004387.4:p.K228E

Associated Papers

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P et al.

Nature Communications, 2014

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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."