Varaico: Literature-Extracted Genetic Variants

Gene:SSBP1
Variant:p.L75P
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SSBP1

NM_003143.3:p.L75P

Associated Papers

A case with bilateral C-shaped autofluorescence in retinal degeneration.

Hsu H et al.

American Journal of Ophthalmology Case Reports, 2025

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

Del Dotto V et al.

The Journal of Clinical Investigation, 2020

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ028
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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."