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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RFC1

Variant:p.E419delFs

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RFC1

NM_002913.5:p.E419delFs

hg38:chr4:39312879 TC>T

Associated Papers

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

Manjunath U et al.

Frontiers in Neuroscience, 2025

41262473 (PubMed )

Supplement: Table_1.XLSX › Sheet2

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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."