Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.C248F
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LARS1

NM_020117.11:p.C248F

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

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.

Tabolacci E et al.

Clinical Genetics, 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."