Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.R100G
Back to variants list

DUOXA2

NM_207581.4:p.R100G

Associated Papers

A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

Targovnik HM et al.

Endocrine, 2025

A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome.

Saiki R et al.

Internal Medicine (tokyo, Japan), 2022

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."