Sentence examples for mutation was reported from inspiring English sources

Although this mutation was reported in clinical cases (Drepper et al., 2011; Lai et al., 2011), the underlying pathogenic mechanism was unknown.

Recently, a pathogenic dyskerin mutation was reported to cause DC-like symptoms in mice [26].

The p.Arg392Cys mutation was reported in co-segregation with hyperglycemia in pregnancy [33].

Recently, a non-synonymous homoplasmic mitochondrial DNA mutation was reported to be associated with severe COX deficiency, multiple neonatal deaths and Leigh's syndrome [30].

This molecule interacted genetically with Appl and is structurally similar to mouse NTKL/SCYL1, whose mutation was reported to cause neurodegeneration.

This type of mutation was reported to correlate with a severe clinical phenotype in other primary immunodeficiencies, such as Wiskott-Aldrich syndrome, [28], as well as in non-immunodeficiency inherited diseases [29].

This mutation is reported to destabilize the tetrameric structure of p53.

Beagles with the same mutation are reported to have a milder phenotype [21], [33].

This mutation is reported only once in the BIC database.

Initially, Drosophila homozygous for this mutation were reported as being sensitive to ionizing radiation.

Recently, a high frequency of NR5A1 gene mutations was reported in a small group of women with POI.