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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERLIN1

Variant:p.Y288_A290delFs

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ERLIN1

NM_006459.4:p.Y288_A290delFs

hg38:chr10:100152309 GCCTGGTA>G

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

41251124 (PubMed )

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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."