Varaico: Literature-Extracted Genetic Variants

Gene:SBF2
Variant:p.G207V
Back to variants list

SBF2

NM_030962.4:p.G207V

Associated Papers

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Al-Saei O et al.

Bmc Genomics, 2024

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T et al.

Bmc Medical Genetics, 2015

26392352 (PubMed )
Supplement: 12881_2015_224_MOESM2_ESM.xlsx › ST2
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."