Varaico: Literature-Extracted Genetic Variants

Gene:DHODH
Variant:p.P43L
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DHODH

NM_001361.5:p.P43L

Associated Papers

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

Mero IL et al.

Heliyon, 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

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Bukowska-Olech E et al.

Frontiers in Genetics, 2020

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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."