Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.R235fs
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PDHA1

NM_000284.4:p.R235fs

Associated Papers

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Coste T et al.

Prenatal Diagnosis, 2025

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.

Coste T et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

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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."