Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.L88_I89del1
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AASS

NM_005763.4:p.L88_I89del1

Associated Papers

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P et al.

Nature Communications, 2018

29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 5_Somatic_indels

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW et al.

Molecular Genetics and Metabolism, 2010

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ et al.

Hepatology (baltimore, Md.), 2007

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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."