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The importance of SHP2 to human health is supported by genetic observations linking SHP2 mutations to several pathological conditions.
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The mutations mapped to several regions on the protein surface, suggesting that NPC2 can bind to more than one membrane simultaneously.
Gcn– mutations map to several additional surfaces in the regulatory eIF2Bα2βδ subcomplex.
The discovery of activating EGFR TK mutations led to several randomised trials comparing EGFR TK inhibitors with chemotherapy in the front-line setting in patients with EGFR TK mutations [41 43].
p.Arg94 is a residue already known to be susceptible to mutation owing to several reported cases resulting in amino acid substitutions p.Arg94Cys, p.Arg94His and p.Arg94Pro (www.interfil.org).org
However, using BALL-SNP, we are able to identify a change in protein stability upon mutation corresponding to several previously unknown nsSNPs.
Furthermore, hyperactivation of the non-RTKs Abl (through the BCR Abl fusion) and JAK2 (through mutation) contributes to several haematological malignancies (Harry et al, 2012).
Further studies have shown that several of these mutations induce resistance to several Met kinase inhibitors [16], [17], [18].
Insulin receptor gene (INSR) mutations are linked to several syndromes of generalized insulin resistance.
Because the assignment of genes to mutations is done based on co-occurrences, sometimes a mutation is assigned to several genes.
Based on the atomic interactions between RB and E2F amino acids, we constructed several mutations to disrupt this E2F-binding pocket.
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