Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.S247N
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SOS1

NM_005633.4:p.S247N

Associated Papers

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

Uliana V et al.

Genes, 2024

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Farncombe KM et al.

Bmc Medical Genomics, 2022

Recent advances in RASopathies.

Aoki Y et al.

Journal of Human Genetics, 2016

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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."