Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.N519D
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ESR1

NM_000125.4:p.N519D

Associated Papers

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.

Meldau S et al.

Jimd Reports, 2025

Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.

Antolínez-Fernández Á et al.

Frontiers in Cell and Developmental Biology, 2024

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Lopez Sanchez MIG et al.

International Journal of Molecular Sciences, 2021

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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."