Sentence examples for variant causes a from inspiring English sources

The variant causes a proline to be replaced with a serine in its derived state.

We demonstrate that this variant causes a defect in neuromuscular synaptogenesis.

This variant causes a non-conservative amino acid change from p. (G6S) of the main isoform.

Taken together, these findings suggest that this variant causes a significant yet incomplete loss of BRCA1 function.

The Int7G24A variant causes a G → A transversion in the +24 position of the donor splice site in intron 7 of TGFBR1.

The c.2299delG variant causes a substantial proportion of cases of Usher syndrome, while the c.2276 G>T change has been associated mainly with disease confined to the eye.

This variant causes an arginine to tryptophan replacement (at site 22 of the amino acid sequence) and was confirmed by capillary sequencing.

The rs1042522 variant causes an amino acid change (R72P) with demonstrated functional consequences; the R72 variant is a stronger and faster inducer of apoptosis than the 72P variant [25], [26] while the 72P variant binds more efficiently to iASPP, an inhibitor of pro-apoptotic function of p53 [27].

Fig. 4a shows that increasing the proportion of HA variant causes an increase in elastic modulus.

18 This variant causes an arginine-to-histidine change at position 389 (R389H) of the protein and leads to complete loss of enzyme activity, resulting in lower levels of calcitriol.

"There are gaps, and we need to remember that a genetic variant causing a disorder might be in one of those gaps," says Ellard.