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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNASEH1

Variant:p.M1delFs

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RNASEH1

NM_002936.6:p.M1delFs

hg38:chr2:3558258 CAT>C

Associated Papers

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Kierdaszuk B et al.

Genes, 2020

33396418 (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."