Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.S21L
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GCSH

NM_004483.5:p.S21L

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Aberrant activation of the PI3K/mTOR pathway promotes resistance to sorafenib in AML.

Lindblad O et al.

Oncogene, 2016

26999641 (PubMed )
Supplement: onc201641x2.pdf

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A et al.

Human Molecular Genetics, 2012

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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."