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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SSBP1

Variant:p.R107*

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SSBP1

NM_003143.3:p.R107*

hg38:chr7:141745500 C>T

Associated Papers

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.

Piro-Mégy C et al.

The Journal of Clinical Investigation, 2020

31550237 (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."