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Glossary Term

Splice-Site Mutation

Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.

Pcr Terms

Article

A novel multiplex digital PCR assay for simultaneous quantification of androgen receptor amplification, mutations, and splice variants in cell-free nucleic acids from metastatic castration-resistant prostate cancer.

Research record from J Liq Biopsy, 2026-10-06. PMID 42893057.

Glossary Term

Exon

The sequences of a gene that are present in the final, mature, spliced messenger RNA molecule from that gene.

Pcr Terms

Article

Multiplex RT-PCR-Based Sequencing Assay to Detect Kidney Cancer-Specific Splice Variants in Tumor Tissues and Plasma Cell-Free RNAs.

Research record from Mol Diagn Ther, 2026-07-06. PMID 42410176.

Tests

Splice Junction Measurement

A determination of the number of transcript splice junctions based on nucleotide sequencing reads extending across the start and/or end of a junction.

For professionals