Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.A347T
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DHODH

NM_001361.5:p.A347T

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

Clinical and genomic features of non-small cell lung cancer occurring in families.

Miyabe S et al.

Thoracic Cancer, 2023

Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.

Orozco Rodriguez JM et al.

Nucleosides, Nucleotides & Nucleic Acids, 2022

Miller syndrome with novel dihydroorotate dehydrogenase gene mutations.

Kinoshita F et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2011

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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."