Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.E102Q
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ERN1

NM_001433.5:p.E102Q

Associated Papers

Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.

Bateman JF et al.

Connective Tissue Research, 2022

Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.

Aishwarya R et al.

Frontiers in Physiology, 2021

Theme 3 In vitro experimental models.

Yang S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019

Role of the Sigma-1 receptor in Amyotrophic Lateral Sclerosis (ALS).

Mavlyutov TA et al.

Journal of Pharmacological Sciences, 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."