Sentence examples for be a neutral polymorphism from inspiring English sources

These and other considerations help classify an initial VUS as likely to be a deleterious mutation or likely to be a neutral polymorphism.

The heterozygosity of the BRCA2 C5972T variant appears to be a neutral polymorphism in women above the age of 40 but may be deleterious prior to age 40.

The fourth change R80H, originally identified in a Finnish CRC patient, was also found in 1/106 familial CRC patients and in 9/281 healthy controls and is likely to be a neutral polymorphism.

Case control studies showed that this double mutation might be a neutral polymorphism in the CBS gene and splicing of the intron 7 eliminates the mutant allele carrying the T833C [ 22].

A recent study reported TM4SF2 duplication in two patients, one with syndromic and the other with nonsyndromic mental retardation [ 66], but suggested that this duplication might be a neutral polymorphism as there was no evidence for skewed X-chromosome inactivation in the unaffected mothers carrying the duplication.

This is consistent with the kinase variant being a neutral polymorphism, and not the cause of disease in this family.

This suggests that the deletion at Y-DAZ3 is a neutral polymorphism in this population and not implicated in susceptibility to TGCT.

We have now identified this same duplication in both male and female unscreened control subjects, supporting the interpretation that this duplication is a neutral polymorphism.

The absence of this mutation from 264 WT chromosomes strongly indicates that it is not a neutral polymorphism but is the causative mutation for the scaleless phenotype.

To confirm that c.535A > T is not a neutral polymorphism present in the WT population we developed a dCAPS genotyping assay to discriminate between WT and sc alleles.

In this work, we have demonstrated that 295T>C in the ZRS is not a neutral polymorphism as previously reported (7), but represents the major cause of triphalangeal thumb (3 of 5 cases) in our patient cohort from southern England.