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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SSBP1

Variant:p.R38*

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SSBP1

NM_003143.3:p.R38*

hg38:chr7:141743587 C>T

Associated Papers

Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.

Chang YH et al.

Investigative Ophthalmology & Visual Science, 2022

35506936 (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."