Varaico: Literature-Extracted Genetic Variants

Gene:ITPA
Variant:p.Q46delFs
Back to variants list

ITPA

NM_033453.4:p.Q46delFs

Associated Papers

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Majethia P et al.

Clinical Genetics, 2024

Spectrum of Common and Rare Small Molecule Inborn Errors of Metabolism Diagnosed in a Tertiary Care Center of Maharashtra, India.

Tamrakar A et al.

Cureus, 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."