Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.D82E
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RIT1

NM_001256821.2:p.D82E

Associated Papers

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Kouz K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Cavé H et al.

European Journal of Human Genetics : Ejhg, 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."