Varaico: Literature-Extracted Genetic Variants

Gene:IRF2BPL
Variant:p.S182fs
Back to variants list

IRF2BPL

NM_024496.4:p.S182fs

Associated Papers

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Iwama K et al.

Journal of Human Genetics, 2025

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."