Varaico: Literature-Extracted Genetic Variants

Gene:LIAS
Variant:p.V180A
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LIAS

NM_006859.4:p.V180A

Associated Papers

Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models.

Deng N et al.

Breast Cancer Research : Bcr, 2022

36153537 (PubMed )
Supplement: 13058_2022_1540_MOESM2_ESM.xlsx › SuppTableS2

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Stowe RC et al.

American Journal of Medical Genetics. Part A, 2018

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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."