Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.P30L
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ITM2B

NM_021999.5:p.P30L

Associated Papers

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Hannah-Shmouni F et al.

Reviews in Endocrine & Metabolic Disorders, 2018

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."