Sentence examples similar to mutation as documented from inspiring English sources
Column I give information about the p53 status of each of the cell-types (if known), as documented in the UMD TP53 mutation database (http://p53.free.htmlatabase/p53_database.html ).html
As documented in earlier reports [28], [34], [41], creation of model organisms with targeted mutation of GRP94 allows comprehensive analysis of its in vivo function.
Pathogenic mutations were defined as mutations previously documented in patients with PCD; or nonsense, frameshift and splice-site mutations resulting in loss-of-function.
Although our data would suggest that 8q gain is important in the development of HPV-negative vulvar cancer, the number of cases in the present study are too small to clearly indicate whether 8q gain is redundant in the development of HPV-positive vulvar cancers, as is documented for mutations in the p53 gene (Flowers et al, 1999; Brooks et al, 2000).
48 Around 700 SCN1A mutations are now documented as being associated with seizures, 9 making this the most commonly mutated of the known genes for monogenic epilepsy conditions.
Only one mutation (p.R565W) was documented in the ClinVar database (identifier: RCV000001633) as a "pathogenic" mutation.> To validate the presence of the mutations and to identify whether they are recessively inherited, we performed Sanger sequencing on all the family members.
Mutations in complex II are relatively rare, as are documented causes of mitochondrial disorders in general.
IL7R mutations were documented in four patients and CD3D mutations in two others.
Recently, HDAC8 mutations were documented in several CdLS patients (8).
p53 mutations were documented in over 50% of human cancers.
