Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.R1065Q
Back to variants list

SBF1

NM_002972.4:p.R1065Q

Associated Papers

Selective mitophagy activation and protein aggregate accumulation in MTMR5/SBF1-deficient fibroblasts.

Zanfardino P et al.

Life Sciences, 2025

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Berti B et al.

Bmc Medical Genomics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."