Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.D399A
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LARS1

NM_020117.11:p.D399A

Associated Papers

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].

Lin WX et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

Casey JP et al.

Molecular Genetics and Metabolism, 2012

A paradigm shift for the amino acid editing mechanism of human cytoplasmic leucyl-tRNA synthetase.

Pang YL et al.

Biochemistry, 2009

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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."