Sentence examples for mutation screening revealed from inspiring English sources

Homozygosity mapping followed by whole-exome sequencing (WES) and founder mutation screening revealed two truncating rare variants (c.893-1G>A c.893-1G>AelT) in CEP78, which encodes centrosomandprotein 78, in six individuals of Jewish anc.534delTth CRD and SNHL.

Subsequent mutation screening revealed two novel missense mutations p.R37L and p.F316S in an Italian cohort of POI patients (Bione et al., 2004).

Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1).

Mutation screening revealed a total of five distinct variants, including one novel mutation (c.1346C>T; p.T449I) and four previously described variants (c.1230_1233delCTCT, c.1362_1377del16, c.1328G>T, and IVS6 + 16G>A).

The immuofluorescence analysis was not performed in the members of family 4. Mutational screening revealed five novel heterozygous mutations (Table 1).

Mutational screening revealed a high frequency of mutations.

Mutational screening revealed a high frequency of recurrent mutations.

Re-analysis of our ATM, BRCA1, and BRCA2 mutation screening data revealed that these genes do not harbor pathogenic alleles (other than modest-risk SNPs) with minor allele frequencies >0.1% in Caucasian Americans, African Americans, or East Asians.

However, a subsequent screening revealed no mutation but two known SNPs in 192 Chinese women with POI (Wang et al., 2012).

The genetic screening revealed a deletion mutation at codons 83 84 in exon 2 of the MEN1 gene.

Genetic screening revealed he was carrying only the p.Gly172Ser mutation but missing the essential splice site mutation c.570+1G>A.