Varaico: Literature-Extracted Genetic Variants

Gene:IARS1
Variant:p.V79L
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IARS1

NM_002161.6:p.V79L

Associated Papers

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.

Watanabe M et al.

Genes, 2024

Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.

Watanabe M et al.

International Journal of Molecular Sciences, 2023

Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle.

Sasaki S et al.

Scientific Reports, 2021

Carrier rate of the c.235G>C mutation in the bovine isoleucyl-tRNA synthetase (IARS) gene of Japanese Black cows at Kagoshima prefecture, Japan, and analysis of the metabolic profiling and reproductive performance of heterozygous cows.

Islam MS et al.

The Journal of Veterinary Medical Science, 2021

Correction of a Disease Mutation using CRISPR/Cas9-assisted Genome Editing in Japanese Black Cattle.

Ikeda M et al.

Scientific Reports, 2017

Mapping of Calf Death in Japanese Black Cattle.

Hirano T et al.

Animal Biotechnology, 2017

IARS mutation causes prenatal death in Japanese Black cattle.

Hirano T et al.

Animal Science Journal = Nihon Chikusan Gakkaiho, 2016

Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.

Hirano T et al.

Plos One, 2013

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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."