Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN1
Variant:p.Q65H
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ERLIN1

NM_006459.4:p.Q65H

Associated Papers

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.

Ozkose GS et al.

Clinical Genetics, 2026

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."