Varaico: Literature-Extracted Genetic Variants

Gene:NPTX1
Variant:p.Q370R
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NPTX1

NM_002522.4:p.Q370R

Associated Papers

A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.

Schöggl J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."