Tag: variant

Researchers have identified a specific amino acid substitution in a cytochrome P450 enzyme that significantly enhances its catalytic turnover and ...

Researchers have identified an exon 11 missense variant in the feline F8 gene associated with severe hemophilia A in domestic ...

Researchers identified a mosaic DNMT3A variant in monozygotic twins with epilepsy, highlighting the complex clinical implications of post-zygotic genetic changes.

A population genomic analysis revealed distinct gut microbial genomic signatures across three pig populations and identified 11 microbial variants associated ...

A case report describes a patient with pregnancy-associated atypical hemolytic uremic syndrome harboring a coagulation factor II gene variant who ...

Researchers at Shijiazhuang Obstetrics and Gynecology Hospital identified a novel heterozygous variant in the PBX1 gene in a Chinese family ...

An Egyptian case-control study reports that the Caspase-8 rs1045485 GG genotype is associated with a sixfold increase in non-Hodgkin lymphoma ...

Targeted next-generation sequencing of 52 thyroid tissue specimens identified distinct mutational profiles distinguishing follicular thyroid carcinoma from follicular thyroid adenoma.

Researchers have identified a prehistoric BRCA1 founder variant in Rwandan breast cancer cases that originated thousands of years ago.

A nationwide survey of practicing variant scientists guided the development of a structured, competency-based curriculum designed to standardize clinical genomics ...