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Article

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.

Scientific reports - 31 May 2017

Lechowicz Urszula, Gambin Tomasz, Pollak Agnieszka, Podgorska Anna, Stawinski Piotr, Franke Andre, Petersen Britt-Sabina, Firczuk Malgorzata, Oldak Monika, Skarzynski Henryk, Ploski Rafal

Abstract excerpt

Autosomal recessive diseases (ARD) are typically caused by a limited number of mutations whose identification is challenged by their low prevalence. Our purpose was to develop a novel approach allowing an efficient search for mutations causing ARD and evaluation of their pathogenicity without a control group. We developed Iterative Sequencing and Variant Screening (ISVS) approach based on iterative cycles of gene...

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Identifiers

PMID: 28566687
DOI: 10.1038/s41598-017-02315-w
PMCID: PMC5451398

Genes

TMPRSS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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