Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.N614K
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LARS1

NM_020117.11:p.N614K

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

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

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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."