Varaico: Literature-Extracted Genetic Variants

Gene:RASA2
Variant:p.Y326N
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RASA2

NM_006506.5:p.Y326N

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

Recent advances in RASopathies.

Aoki Y et al.

Journal of Human Genetics, 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."