Sentence examples for variants present with from inspiring English sources

This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy.

A fully assembled and phased diploid genome makes it possible to identify all structural variants present with direct access to the breakpoints involved.

While prior reports suggest the majority of LND variants present with problems related to uric acid, our results suggest the majority present with neurological problems.

Neuronopathic Gaucher disease variants present with brainstem, cerebellar, thalamic, cerebral cortical and substantia nigra involvement, but the degrees of involvement and affected regions vary among the patients (26– 26).

Polyfunctional CD8+ T cell responses induced by the 15mer peptide-loaded DC supported this peptide as the optimal epitope, but were less discriminatory among the 8-10mer, N and C terminal variants presented with or without DC.

Clinical hallmarks are prolonged fever, cytopenias, hepatosplenomegaly, and neurological symptoms, but atypical variants presenting with signs of chronic immunodeficiency are increasingly recognized.

All somatic variants presenting with VAFs lower than our very conservative threshold for minor cross-contamination (5-times 95% upper limit of contamination levels for each tumor sample, see above "Minor cross-contamination of DNA samples") were removed.

Furthermore, besides the 177 bp band, the c.4988T>A/p.Met1663Lys and c.5072C>T/p.Thr1691Ile variants presented with a very weak wild-type band at 265 bp constituting 7%% and 17.5 % of the total amount of transcript, respectively (Fig.  2b).

In only one patient, there was a rare variant present with hypokinesis or akinesis of the mid and basal segments of the LV with preserved apical function.

Carriers of the L75P apoA-I variant present with a moderate hypoalphalipoproteinemia (30% reduction in HDL-C), which tend to worsen with disease progression.

In histopathological analysis, young mice expressing either LRRK2 variant presented with transient vacuolization of striatal white fiber tracts accompanied by accumulation of microglial cells and astrogliosis, but inflammation resolved without permanent damage.