Varaico: Literature-Extracted Genetic Variants

Gene:SHD
Variant:p.V323M
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SHD

NM_020209.4:p.V323M

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."