Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.H55fs
Back to variants list

DHODH

NM_001361.5:p.H55fs

Associated Papers

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Aubert Mucca M et al.

Clinical Genetics, 2026

41339098 (PubMed )
Supplement: CGE-109-188-s001.xlsx › Literature

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.

Yang K et al.

Molecular Genetics & Genomic Medicine, 2023

Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.

Duley JA et al.

Molecular Genetics and Metabolism, 2016

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."