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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNASEH1

Variant:p.H260Y

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RNASEH1

NM_002936.6:p.H260Y

hg38:chr2:3545868 G>A

Associated Papers

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Erdinc D et al.

Embo Molecular Medicine, 2023

37013609 (PubMed )

Supplement: EMMM-15-e16775-s002.pdf

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