Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.S324*
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SLC20A2

NM_001257180.2:p.S324*

Associated Papers

SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.

Woo KA et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Refractory focal epilepsy in a paediatric patient with primary familial brain calcification.

Knowles JK et al.

Seizure, 2018

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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."