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People with mutations in this gene sometimes have autism.
Additional cases have been associated with mutations in GATA1.
Women with mutations in a gene called Brca1 tend to develop this kind of aggressive breast tumor.
Disseminated tumor cells were once believed to be replete with mutations.
Zhou, Q. et al. Early-onset stroke and vasculopathy associated with mutations in ADA2.
Parkinson, N. et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Antoniou, A. C. et al. Breast-cancer risk in families with mutations in PALB2.
Report of two patients with mutations in the BAF complex genes.
The team then compared these signatures with mutations seen in human cancers.
Mice with mutations in both Galgt1 and Siat8a have a block after GM3 ganglioside synthesis10,15.
Compounds that show promise in mice with mutations may offer similar hope to humans.
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