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Human SOS1 wild-type allele is located in the vicinity of 2p21 and is approximately 143 kb in length. This allele, which encodes son of sevenless homolog 1 protein, plays a role in both signaling and guanine nucleotide exchange. Mutation of the gene is associated with both gingival fibromatosis type 1 and Noonan syndrome type 4.
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