1
The majority of pathogenic mutations in BRCA1 result in a truncated protein.
2
Results: In 48 patients pathogenic mutations confirming the clinical diagnosis were detected.
3
Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes.
4
Despite the aggregation observed in some families, pathogenic mutations have remained elusive.
5
None of the patients carried any pathogenic mutations in the Nurr1 gene.
6
Neither pathogenic mutations nor copy number variation was identified among the nuclear genes.
7
Besides 75 true pathogenic mutations, we identified several variants of unknown clinical significance.
8
No pathogenic mutations were identified in one multiplex family and one consanguineous family.
9
Expression and coimmunoprecipitation studies were performed to functionally characterize the putative pathogenic mutations.
10
No pathogenic mutations were identified in selected candidate genes or the mitochondrial genome.
11
We did not find any pathogenic mutations in the TCIRG1 gene.
12
It is currently thought that the pathogenic mutations alter substrate preference (e.g.
13
Targeted next-generation sequencing panels revealed no definitive pathogenic mutations or fusion proteins in either case.
14
The four pathogenic mutations occur in a structurally dynamic gating region on the cytosolic side.
15
No pathogenic mutations were identified in the OFCD cases.
16
No pathogenic mutations were detected in GHP without dysplasia.
