Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.R390G
Back to variants list

SBF1

NM_002972.4:p.R390G

Associated Papers

Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.

Lindzon J et al.

Brain Communications, 2025

40066109 (PubMed )
Supplement: fcaf077_supplementary_data.zip › Supplementary_Table1_patientmutations.xlsx › Published_CMT4B3_Patients

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.

Mammel AE et al.

Human Molecular Genetics, 2022

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Manole A et al.

Neurogenetics, 2017

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."