Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.Y373C
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LARS1

NM_020117.11:p.Y373C

Associated Papers

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

Uehara T et al.

American Journal of Medical Genetics. Part A, 2024

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.

Li SY et al.

Orphanet Journal of Rare Diseases, 2024

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Lenz D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Casey JP et al.

Journal of Inherited Metabolic Disease, 2015

Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.

Datt M et al.

Bmc Genomics, 2014

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

Casey JP et al.

Molecular Genetics and Metabolism, 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."