PubMed ID | Description |
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21387466 | Per this reference, all SOS1 mutations that have been described in association with Noonan syndrome have been missense mutations that are thought to result in gain of function. No nonsense or deletion mutations have been described at this time. |
There has been a report of an insertion mutation that introduced a frameshift and created a premature stop codon in association with hereditary gingival fibromatosis (PMID: 11868160). Please note that the ISCA loss of function score has been assigned based on the Noonan syndrome phenotype.