Sentence examples for variants causing a from inspiring English sources
Based on these results, they concluded that rare variants causing a significant inhibition of reverse transport of DA may play a pathogenic role in autism.
This variation pattern was observed throughout the gene in at least 115 instances in both sets of 20 samples, with 14 of these instances occurring in exonic regions, and 7 of those exonic variants causing a coding change.
In addition, 7289 variants causing a change within the region of the splice site (1 3 bases into an exon or 3 8 bases into an intron) were found.
Two families presenting with a current at-risk pregnancy were then studied prospectively, and a molecular genetic diagnosis was obtained in both families through the identification of GLE1 and RYR1 variants causing a severe form of fetal akinesia syndrome with arthrogryposis.
Because we were searching for variants causing a very rare lethal disorder, we applied the following criteria to look for rare potentially deleterious variants: MAF<1% in dbSNP137 variants, or MAF<0.01% in ESP or 1000 Genomes, or present in HGMD as a disease-causing variant.
The six coding variants causing an amino acid change were genotyped in an independent European Caucasian validation group consisting of 46 unrelated breast cancer cases originating from high-risk non-BRCA1/2 families (Table 2).
Robot attacks, even from the more docile variants, cause a lot of damage, so the player must keep Aloy moving in combat situations.
The abundance of low frequency variants causes a shift of high frequency alleles towards a slightly lower frequency class.
Despite the length variation in the ycf2 coding region, none of the variants caused a change in the reading frame.
Of course, these pathogenic variants cause a range of different phenotypes, which could in principle affect the inheritance of that variant.
The majority of these nucleotide variants cause a single amino acid substitution of the tyrosine residue at position 641 and a minority affect alanine 677.
