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The degree of penetrance of this EVE neural phenotype is variable: all Df(1 446-20 embryos show at least two missing RP2s whereas Ppt1A179T and Ppt1S77F point mutations range from 32 50%.
In contrast, tumors in other subtypes displayed fewer PIK3CA mutations (range from 3%to42%2%).
These somatic mutations range from severe insertion deletion and chain termination mutations to mild missense mutations.
The biological consequences of p53 mutations range from the mere loss-of-function to gain-of-function.
These mutations range from deletion or duplication of a single exon to whole-gene deletions of either BRCA1 or BRCA2.
When types of point mutations range from nonsense, missense to splice site mutation, the corresponding clinical presentation can also differ considerably.
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PIK3CA is the most frequently mutated oncogene in human breast cancers and shows activating mutations ranging from 10% in the triple-negative subgroup to 40% in the hormonal receptor-positive/ERBB2-negative subgroups.
CRISPR/Cas9 (CRISPR-associated protein 9) genome editing has been used to correct disease-causing DNA mutations ranging from a single base pair to large deletions in model systems ranging from cells in vitro to animals in vivo.
Similar to the spectrum of hematological findings associated with telomerase mutations, ranging from isolated macrocytosis to acute myeloid leukemia, liver disease was heterogeneous in severity and pathology among telomerase-mutation carriers.
To determine the in vivo function of PiT1, we targeted the PiT1 locus by homologous recombination in ES cells and generated an allelic series of mutations ranging from mild impairment to elimination of PiT1 function.
The number of somatic mutations ranged from 743 to 3910.
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