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