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Significados de pathogenic mutations en inglés

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