Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.L613V
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SOS1

NM_005633.4:p.L613V

Associated Papers

SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.

Cowan JR et al.

Circulation. Genomic and Precision Medicine, 2020

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Chinton J et al.

Archivos Argentinos De Pediatria, 2019

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M et al.

Annals of the New York Academy of Sciences, 2010

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Denayer E et al.

Genes, Chromosomes & Cancer, 2010

Noonan syndrome: clinical aspects and molecular pathogenesis.

Tartaglia M et al.

Molecular Syndromology, 2010

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B et al.

Nature Genetics, 2007

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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."