Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.Q426P
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SOS1

NM_005633.4:p.Q426P

Associated Papers

Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature.

Tian QJ et al.

World Journal of Gastroenterology, 2025

Case report: Noonan syndrome with protein-losing enteropathy.

Ou Y et al.

Frontiers in Genetics, 2023

Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy.

Kleimeier LER et al.

Journal of Clinical Medicine, 2022

SOS GEFs in health and disease.

Baltanás FC et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2020

Defining language disorders in children and adolescents with Noonan Syndrome.

Lazzaro G et al.

Molecular Genetics & Genomic Medicine, 2020

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Maher GJ et al.

Genome Research, 2018

30355600 (PubMed )
Supplement: supp_gr.239186.118_Supplemental_Table_S3.xlsx › Table_of_prioritized_calls

Psychopathological features in Noonan syndrome.

Perrino F et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

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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."