Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.V606insFs
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LARS1

NM_020117.11:p.V606insFs

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

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.

La Fay C et al.

European Journal of Medical 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."