Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.V136G
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ERLIN2

NM_007175.8:p.V136G

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG18

Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.

Trinchillo A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

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

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.

Chen S et al.

Brain and Behavior, 2021

Expansion of the genetic landscape of ERLIN2-related disorders.

Srivastava S et al.

Annals of Clinical and Translational Neurology, 2020

The emerging genetic landscape of cerebral palsy.

van Eyk CL et al.

Handbook of Clinical Neurology, 2018

Clinical whole exome sequencing in child neurology practice.

Srivastava S et al.

Annals of Neurology, 2014

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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."