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When these genes don't work properly, they can lead to cancer-promoting mutations and result in a colon tumor riddled with 1000 or more mutations, 10 to 100 times the usual number.
In summary, both the BcorNeo and BcorGt alleles represent severe loss of function mutations and result in kinked and shortened tails and a coat color bias in chimeric animals.
All of these differences arise from point mutations and result in six amino acid exchanges in the encoded proteins: two at positions 3 and 4 of the propeptide, and four in the mature protein.
54, 55 Activating mutations consist of in-frame deletions, insertions, or missense mutations, and result in constitutive receptor activation independent of ligand binding.
Most of the described AIP mutations identified via standard sequencing techniques change the amino acid sequence due to nonsense, deletion, or insertion mutations, and result in a loss of the C-terminal end of the protein.
However, the preparation procedure of FFPE tissue with formaldehyde fixation and long-term storage at room temperature may generate DNA mutations and result in the identification of false SNVs or InDels.
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The vast variability in disease-inducing mutations and resulting phenotypes has hampered the development of therapeutic interventions.
Wilson disease (WD) is caused by ATPase copper-transporting beta (ATP7B) mutations and results in copper toxicity in liver and brain.
This causes a slow accumulation of mutations and results in the development of cancers.
This causes a slow accumulation of mutations and results in the development of many types of cancer in the sufferer.
The viral oncoproteins affect the repair system, allowing an accumulation of stochastic mutations and resulting in increased genomic instability [ 17].
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