Sentence examples for as a probable pathogenic from inspiring English sources

Our literature review revealed that limited analyses have led to the misclassification of RET Y791F as a probable pathogenic variant and, consequently, to the occurrence of unnecessary thyroidectomies.

Furthermore, type I IFN has been reported to be a probable pathogenic factor in CTD, such as systemic lupus erythematosus (SLE) [ 3] and systemic sclerosis (SSc), through vascular pathology [ 4].

This points to a probable pathogenic action of IgG autoantibodies.

The LSDBs and catalogs of clinically-relevant variants such as HGMD and ClinVar catalog variants identified in a gene together with annotations of each variant as "pathogenic," "probable pathogenic," "variant of unknown significance," "probable non-pathogenic," or "non-pathogenic" (or similar categories).

Of these, 250 were listed as known pathogenic or probable pathogenic in at least one database or were a premature translation termination, loss of a translation termination codon, loss of a translation initiation codon, or alteration of canonical splice donor or acceptor site.

According to the strong functional data, however, the evidences are in favour to classify this mutation as probable pathogenic.

We propose to classify the E682K mutation as probable pathogenic awaiting further independent confirmation of its association with AD in other patients.

Although strictly spoken a second case with this mutation needs to be identified as independent confirmation (Guerreiro et al, 2010), we propose that the accumulated evidence is clearly in favour to classify this mutation as probable pathogenic.

OMIM does not provide statistics for allelic variants on its website; however, 22,901 germline OMIM variants appear to have been added to ClinVar, which itself contains a total of 25,375 pathogenic and probable pathogenic germline variants, while dbSNP contains 23,973 pathogenic or probable pathogenic germline variants (all databases were accessed July 10th 2013).

In certain situations, our predictions thus seem more sensitive than experimental data regarding HIFα regulation in terms of determining the probable pathogenic effect of a mutation.

In addition, we determined the prevalence of the 25(OH)D3 levels in patients with UCTD and assessed its probable pathogenic role in the progression toward a well-defined CTD.