Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.E273_L274Splc
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DHODH

NM_001361.5:p.E273_L274Splc

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

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

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

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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."