Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.K287_S291insFs
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ERLIN2

NM_007175.8:p.K287_S291insFs

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

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Fehlings DL et al.

Nature Genetics, 2024

Expansion of the genetic landscape of ERLIN2-related disorders.

Srivastava S et al.

Annals of Clinical and Translational Neurology, 2020

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

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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."