Varaico: Literature-Extracted Genetic Variants

Gene:HSPE1
Variant:p.L73F
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HSPE1

NM_002157.3:p.L73F

Associated Papers

Mass spectrometry-based targeted proteomics for analysis of protein mutations.

Lin TT et al.

Mass Spectrometry Reviews, 2023

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.

Cömert C et al.

Cold Spring Harbor Molecular Case Studies, 2020

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.

Bie AS et al.

Frontiers in Molecular Biosciences, 2016

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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."