Varaico: Literature-Extracted Genetic Variants

Gene:RAF1
Variant:p.S259delins
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RAF1

NM_002880.4:p.S259delins

Associated Papers

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Jaouadi H et al.

Genetics Research, 2019

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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."