Sentence examples for mutation described in from inspiring English sources

This mutation mimics a mutation described in one lissencephaly patient with a milder phenotype.

"It is the fastest change in the frequency of a mutation described in humans," said Professor Nielsen.

The mutation, described in the journal Science Advances, did not seem to have any effect on women.

The only large mutation described in NEB thus far is the 2.5 kb deletion of exon 55 in the Ashkenazi Jewish population.

While the molecular function of the gene is unknown, Lrt1 is similar in appearance to the Solitary-root/iaa14 (Slr1) mutation described in A. thaliana [26], as the mutation is dominant and the phenotype described for A. thaliana is very similar to that observed for rice.

The mutation, described in this month's issue of the Journal of Medical Genetics, was caught with a technique developed by researchers at the Institut Pasteur in Paris, and the Curie-led team argues that the technique should be used as an alternative or supplement to Myriad's test.

Background: Several mutations described in the connexin-26 gene cause nonsyndromic autosomal recessive deafness (NARD).

Accumulated possible pathogenic mutations in Tibetan highlanders were also compared to those in 367 East Asians from 1000 Genomes Projects based on database of pathogenic mutations described in MITOMAP35, tRNA pathogenicity19 and Mutpred scores20, respectively.

This approach to cancer studies clearly proves the potential of our NUMT database as a valuable new tool to validate mtDNA mutations described in different contexts.

We searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (568 pathogenic mutations in total, updated on Jan, 8th, 2015, with synonymous and HVS mutations removed)35 to identify mutations that lead to radical changes in RNA or protein function.

Therefore, we searched the defining variants of the 22 highlander-specific lineages in the database of pathogenic mutations described in MITOMAP (updated on Jan, 8th, 2015, with synonymous and HVS mutations removed, 568 mutations in total) to identify mutations that may lead to radical changes in RNA or protein function.