Varaico: Literature-Extracted Genetic Variants

Gene:SOS2
Variant:p.T264K
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SOS2

NM_006939.4:p.T264K

Associated Papers

Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.

Krgovic D et al.

Frontiers in Molecular Neuroscience, 2022

SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.

Baltanás FC et al.

International Journal of Molecular Sciences, 2021

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

Lissewski C et al.

European Journal of Human Genetics : Ejhg, 2021

A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema.

Ding Y et al.

Chinese Medical Journal, 2019

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

Tajan M et al.

Endocrine Reviews, 2018

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cordeddu V et al.

Human Mutation, 2015

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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."