Significats de pathogenic variant en anglès

Members in one branch were homozygous for a pathogenic variant of TMC1.

An individual with isolated NSHL carried a pathogenic variant in MITF.

The variant calls were filtered to reveal the pathogenic variant.

Results: NS candidate genes sequencing did not identify any pathogenic variant in the known genes.

It full filled the criteria of a pathogenic variant.

Discussion: Ile416Thr is a novel pathogenic variant that causes AD in the sixth decade of life.

Genetic testing revealed a single likely pathogenic variant of the IMPG2 gene that may explain the examination findings.

Impact: Functional investigation of genetic association findings is necessary to discover a pathogenic variant for breast cancer risk.

An example: Let's say you have a pathogenic variant in a Long QT gene, associated with sudden cardiac death.

A single pathogenic variant was identified in PIEZO2, a gene that was not previously associated with isolated ocular defects.

This high-confidence region includes 91.5% of exon sequence and 95.2% of known pathogenic variant positions.

Conclusion: A considerable fraction of pediatric glioma patients, especially those of higher grade, harbor a putatively pathogenic variant in a cancer predisposition gene.

Results: The proband was a cytogenetically normal female with severe hemophilia A resulting from a heterozygous F8 pathogenic variant inherited from her similarly affected father.

The likelihood of being positive for the Icelandic founder BRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea.

A phenocopy of WS1 was observed in a subject with a reported pathogenic variant in GJB2, known to cause isolated NSHL.

In this cohort, 12.5% of the BRCA-negative breast cancer patients were found to carry a known pathogenic variant or a variant affecting protein activity.