Varaico: Literature-Extracted Genetic Variants

Gene:UMPS
Variant:p.I448V
Back to variants list

UMPS

NM_000373.4:p.I448V

Associated Papers

Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.

VanSickle EA et al.

American Journal of Medical Genetics. Part A, 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."