Sentence examples for mutations of unknown from inspiring English sources

The German study correlated SIDS cases with a specific haplotype within the displacement loop [ 90], whereas the Norwegian study identified four mutations of unknown significance, while no controls were mutated [ 91].

Thirteen missense mutations of unknown significance were also identified.

Mis-sense mutations of unknown significance were found in three patients.

Cancer genomes contain numerous genes with low-frequency mutations of unknown functional significance.

Annotated non-pathogenic variations were excluded from results, whereas remaining potentially pathogenic variations and mutations of unknown significance were retained.

Mutations that have not been fully analyzed yet will be characterized as mutations of unknown clinical significance.

In patient 11872.p1, another risk mutation of unknown functional relevance (splice site mutation in KATNAL2) was reported (24).

In studying the effects of BRCA1 R1699Q, a mutation of unknown clinical significance, Chang and colleagues discovered a novel mechanism for BRCA1 as a tumor suppressor gene [ 9].

Approximately 50% of affected people inherit the disorder; in others the disorder is caused by a spontaneous genetic mutation of unknown cause.

The eam5 locus was described as a mutation of unknown origin isolated from an ICARDA/CIMMYT selection CMB85-533 (Higuerilla*2/Gobernadora) and mapped onto chromosome 5H (Jain 1961; Franckowiak 2002).

The bioinformatic analyses using PolyPhen-2, SIFT and PROVEAN tools predicted that this variant is not pathogenic, and therefore we classified this missense mutation as a new mutation of unknown significance.