Varaico: Literature-Extracted Genetic Variants

Gene:SSBP1
Variant:p.R91Q
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SSBP1

NM_003143.3:p.R91Q

Associated Papers

Mitochondrial transplantation restores mitochondrial content and function in SSBP1-related mitochondrial DNA depletion syndrome.

Kim D et al.

Bmb Reports, 2025

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function.

Cha JH et al.

Molecular Therapy. Nucleic Acids, 2024

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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."