Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R350L
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KIF1A

NM_001244008.2:p.R350L

Associated Papers

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Schröter J et al.

European Journal of Human Genetics : Ejhg, 2022

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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."