Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.N535K
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GBA2

NM_020944.3:p.N535K

Associated Papers

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA et al.

Pediatric Neurology, 2024

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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."