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Significados de pathogenic variants en inglés

Aún no tenemos significados para "pathogenic variants".
Uso de pathogenic variants en inglés
1
Osteosarcoma has been reported in a few males with germline pathogenic variants.
Pubmed
2
Functional experiments were performed to link these pathogenic variants to the imprinting defect.
Pubmed
3
RASopathies caused by germline pathogenic variants in genes that encode RAS pathway proteins.
Pubmed
4
Results: Thirty-eight patients with pathogenic variants in MTFMT were identified, including eight new cases.
Pubmed
5
Whole exome sequencing has the potential to identify THRB pathogenic variants as incidental findings.
Pubmed
6
It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene.
Pubmed
7
Those with pathogenic variants had clinical features consistent with GCK-MODY.
Pubmed
8
As a result, our model predicted pathogenic variants with a 10% false-positive rate.
Pubmed
9
WES and WGS did not identify potentially pathogenic variants shared by all three affected members.
Pubmed
10
Screening for causative mutations in familial AD and other dementia genes revealed no pathogenic variants.
Pubmed
11
Twenty-four pathogenic variants and two CNVs were found in 48% of POI women.
Pubmed
12
Purpose: To delineate the genotype-phenotype correlation in individuals with likely pathogenic variants in the CLTC gene.
Pubmed
13
Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.
Pubmed
14
Purpose: Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer.
Pubmed
15
Candidate pathogenic variants were confirmed by Sanger sequencing.
Pubmed
16
Candidate pathogenic variants were validated by Sanger sequencing.
Pubmed
Esta colocación está formada por:
Pathogenic variants a través del tiempo
Pathogenic variants por variante geográfica
Estados Unidos de América
Común