Varaico: Literature-Extracted Genetic Variants

Gene:LARS1
Variant:p.L712del1
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LARS1

NM_020117.11:p.L712del1

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 feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].

Lin WX et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

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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."