Varaico: Literature-Extracted Genetic Variants

Gene:PYROXD2
Variant:p.S497insFs
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PYROXD2

NM_032709.3:p.S497insFs

Associated Papers

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Ball M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Van Bergen NJ et al.

International Journal of Molecular Sciences, 2022

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
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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."