Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.R248H
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SOS1

NM_005633.4:p.R248H

Associated Papers

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Wen J et al.

American Journal of Medical Genetics. Part A, 2022

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Shukla N et al.

Nature Communications, 2022

35585047 (PubMed )
Supplement: 41467_2022_30233_MOESM7_ESM.xlsx › Supplementary_Data_4

SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.

Swanson KD et al.

Genes, Chromosomes & Cancer, 2008

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