Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.K504E
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SOS1

NM_005633.4:p.K504E

Associated Papers

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Ouboukss F et al.

Journal of Applied Genetics, 2024

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

Bertola DR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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

Chinton J et al.

Archivos Argentinos De Pediatria, 2019

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Papadopoulou A et al.

European Journal of Pediatrics, 2012

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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."