Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.I451F
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LARS1

NM_020117.11:p.I451F

Associated Papers

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

Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.

Inoue M et al.

Orphanet Journal of Rare Diseases, 2024

Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.

Hirata K et al.

American Journal of Medical Genetics. Part A, 2021

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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."