Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.P161T
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ERLIN2

NM_007175.8:p.P161T

Associated Papers

Association of novel ERLIN2 gene variants with hereditary spastic paraplegia.

Bermejo Ramírez R et al.

Human Genome Variation, 2025

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Cioffi E 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."