Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.S2673L
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VPS13A

NM_033305.3:p.S2673L

Associated Papers

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Zhang C et al.

Nature, 2025

39743596 (PubMed )
Supplement: 41586_2024_8341_MOESM1_ESM.pdf

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Peloso GM et al.

Circulation. Cardiovascular Genetics, 2016

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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."