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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECHDC1

Variant:p.G93A

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ECHDC1

NM_001002030.2:p.G93A

hg38:chr6:127327087 C>G

Associated Papers

Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosis.

Maity D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

39570437 (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."