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Article

Mining for single nucleotide variants (SNVs) at the kallikrein locus with predicted functional consequences.

Biological chemistry - 1 Sept 2014

Sukumar Niron, Scott Erika, Dimitromanolakis Apostolos, Misiak Alexandra, Prassas Ioannis, Diamandis Eleftherios P, Konvalinka Ana

Abstract excerpt

Kallikreins (KLKs) are a group of 15 serine proteases encoded by the KLK locus on chromosome 19. Certain single nucleotide variants (SNVs) within the KLK locus have been linked to human disease. Next-generation sequencing of large human cohorts enables reexamination of genomic variation at the KLK locus. We aimed to identify all KLK-related SNVs and examine their impact on gene regulation and function. To this...

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Source

Identifiers

PMID: 25153386
DOI: 10.1515/hsz-2014-0136

Genes

KLK1
KLK6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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