Varaico: Literature-Extracted Genetic Variants

Gene:HKDC1
Variant:p.T114T
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HKDC1

NM_025130.4:p.T114T

Associated Papers

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S et al.

Neurogenetics, 2013

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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."