Varaico: Literature-Extracted Genetic Variants

Gene:ISCU
Variant:p.G96V
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ISCU

NM_213595.4:p.G96V

Associated Papers

Autosomal dominant myopathy caused by a novel ISCU variant.

Rusecka JM et al.

Frontiers in Genetics, 2025

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.

Maio N et al.

Trends in Biochemical Sciences, 2020

PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.

Rawcliffe DFR et al.

Molecular Genetics & Genomic Medicine, 2018

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A et al.

Journal of Medical Genetics, 2017

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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."