Sentence examples for be a rare polymorphism from inspiring English sources

On the other hand, we cannot exclude the possibility that this could be a rare polymorphism.

We believe that it might be a rare polymorphism, but functional studies and segregation analysis would be valuable tools to determine the pathogenicity of this substitution.

Given the frequency with which we found D354N in controls and its relatively low conservation, it may be a rare polymorphism.

In summary, the clinical data on the compound heterozygote subjects support that the c.896C > T, p.A299V change might be a rare polymorphism and the in vitro data are compatible with this.

We also found four F354L alterations (data not shown) but we did not consider these as missense mutations as this alteration has previously been reported to be a rare polymorphism of the gene (Launonen et al, 2000).

We also found a novel missense variant, p.P93R; c.278C>G that affects a residue within a highly variable region of the gene and is likely to be a rare polymorphism.

One explanation for this could be that this is a rare polymorphism.

This novel CHM insertion mutation, rather than being a rare polymorphism in the general population, resulted in a truncated protein, commonly observed in CHM families.

This mutation was not found in 10 unaffected family members, or in 200 unaffected and unrelated individuals, thereby excluding the possibility that it is a rare polymorphism.

V399 is not conserved in other species (mouse, zebrafish and xenopus) and the amino-acid substitution is conservative, suggesting that this variant is a rare polymorphism rather than a disease-causing change.

The c.59C > G (P20R) mutation in CRYAB was not listed in the NCBI SNP database (dbSNP), Exome Variant Server or Human Gene Mutation Database (HGMD), which excludes the possibility that it is a rare polymorphism.