Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.F198S
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ERN1

NM_001433.5:p.F198S

Associated Papers

Leber's Hereditary Optic Neuropathy: the roles of mitochondrial transfer RNA variants.

Ding Y et al.

Peerj, 2021

Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Mulugeta S et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015

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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."