Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.Q498*
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ATN1

NM_001940.4:p.Q498*

Associated Papers

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

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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."