Sentence examples for variants were novel from inspiring English sources

Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations.

Seven of these variants were novel.

27 of these variants were novel; 24 thereof non-synonymous.

Eleven of the certain, likely, and uncertain pathogenic variants were novel.

Eight variants had previously been described in association with PFIC and ten variants were novel.

Of these, 26 sequence variants were novel (nine in BRCA1 and 17 in BRCA2).

We found several heterozygous variants both in patients and controls.,Two of the variants are novel and present only in PD cases (p.R334H and p.A46T).

The other 13 splice variants are novel and named as MmusRAGEv1 to v13 (fig. 6).

All three variants are novel and affect amino acids that are highly evolutionarily conserved, from zebrafish to humans (Supplementary Figure 3).

Therefore, both variants are novel, and, if not private, they are present at a frequency below 0.0001 in healthy individuals of European ancestry.

Of the total, 7824 variants could be mapped to other known variations in M. tuberculosis retrieved from dbSNP, MTCID and TBDB, suggesting that 21 632 variants are novel and reported for the first time in this report.