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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SSBP1

Variant:p.E19_T20insFs

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SSBP1

NM_003143.3:p.E19_T20insFs

hg38:chr7:141742201 A>AC

Associated Papers

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto V et al.

The Journal of Clinical Investigation, 2020

31550240 (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."