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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:REST

Variant:p.E754delFs

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REST

NM_005612.5:p.E754delFs

hg38:chr4:56931116 TG>T

Associated Papers

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Sklenar M et al.

Molecular Medicine (cambridge, Mass.), 2025

40426046 (PubMed )

Supplement: 10020_2025_1262_MOESM1_ESM.docx

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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."