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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYSF

Variant:p.Q1946*

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DYSF

NM_003494.4:p.Q1946*

hg38:chr2:71679125 C>T

Associated Papers

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.

Wang D et al.

Cns Neuroscience & Therapeutics, 2024

39350328 (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."