Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.Q863K
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SOS1

NM_005633.4:p.Q863K

Associated Papers

Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.

Gao Q et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

Baban A et al.

American Journal of Medical Genetics. Part A, 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."