Sentence examples for variants with severe from inspiring English sources

Noteworthy, the three variants with severe consequence for the BER pathway were found among patients with PSC with or without CCA.

However, with the development of larger catalogs of common variation (Kidd et al., 2008; McCarroll et al., 2008) and continuing discovery of rare variants with severe phenotypic effects (Sebat et al., 2008; Walsh et al., 2008), it is critical to efficiently genotype specific CNVs in large populations.

The prevalence of the novel HRV-C in our specimens (4.1%) differed from previous studies that associated the prevalence of the novel variant with severe disease outcomes, which ranged from influenza-like illness or infection of the low respiratory tract [17], [28] to asthma exacerbation, bronchiolitis, and febrile wheeze [7], [8], [15], [18], [20], [21], [29], [39].

Future studies should include information on functional biological pathways and gene variants associated with severe obesity.

Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W) were rare in the general population.

All study enrolled patients will be asked for blood samples and to be a part of the Norwegian NASATS program – Severe Mental Illness, aiming to identify new genetic variants associated with severe mental disorders [ 4].

There are variants with potentially severe effects that are identified with one method and not another.

There are some reports of association of PC mutation with fulminant hepatic failure [ 35] and the BCP variants with more severe liver damage [ 36- 39] and HCC [ 40- 43].

This mechanism results in the formation of an isodicentric Y chromosome, a chromosomal variant associated with severe clinical consequences ranging from spermatogenic failure to sex reversal.

PfEMP1 is believed to play an important role in parasite pathogenesis and immune evasion [ 58]; it contributes to antigenic variation and cytoadherence, and the expression of specific PfEMP1 variants is associated with severe malaria in children [ 59].

This is consistent with suggestions that FLG variants are associated with severe forms of AD which are more readily ascertained in hospital based studies [20] [23].