Varaico: Literature-Extracted Genetic Variants

Gene:HSPE1
Variant:p.R15L
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HSPE1

NM_002157.3:p.R15L

Associated Papers

Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.

Straub IR et al.

Human Molecular Genetics, 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."