Varaico: Literature-Extracted Genetic Variants

Gene:RASA2
Variant:p.Y326C
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RASA2

NM_006506.5:p.Y326C

Associated Papers

Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.

Bajia D et al.

Cells, 2022

Pathogenetics of the RASopathies.

Tidyman WE et al.

Human Molecular Genetics, 2016

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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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."