Varaico: Literature-Extracted Genetic Variants

Gene:HK3
Variant:p.V559V
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HK3

NM_002115.3:p.V559V

Associated Papers

Loss-of-function de novo mutations play an important role in severe human neural tube defects.

Lemay P et al.

Journal of Medical Genetics, 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."