Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.E184K
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ERLIN2

NM_007175.8:p.E184K

Associated Papers

A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.

Sadr Z et al.

The International Journal of Neuroscience, 2024

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.

de Souza GC et al.

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